ASHG 2026 at a glance

This is the main program of ASHG 2026 by overall session type. Click a block to see what's in it, and a session to see its talks. Clicking on a platform block will show a grid view of the parallel sessions. Data up to date as of Sat, 17 October. For ancillary and all-day events, details (like abstracts), and up-to-the minute updates see the official program.

Tue 20 Oct

09:00–12:00
Workshops & short courses
5 Workshop
  • Nextflow for Omics: Jumpstart your Analyses with nf-core Pipelines
    Workshop09:00–12:00Room 513DEF/Level 5IntermediateTicketed Event
  • Short Course: Active Learning Strategies for Teaching Variant Curation (Part 2 of 3)
    Workshop09:00–12:00Room 514BC/Level 5IntermediateTicketed Event
  • Short Course: UCSC Genome Browser (Part 2 of 3)
    Workshop09:00–12:00Room 515AB/Level 5BasicTicketed Event
  • Modeling Choices in Omics: Implications for Health Disparities in Human Genetics
    Workshop10:00–12:00Room 518/Level 5BasicTicketed Event
  • Strategies for Communicating Your Science
    Workshop10:00–12:00Room 524AB/Level 5BasicTicketed Event
12:00–13:00Lunch
13:00–16:00
Workshops & short courses
5 Workshop
  • Fine-mapping and Colocalization with Structural Variants: Practical Workflows Using GWAS and Multi-omic Summary Statistics
    Workshop13:00–15:00Room 518/Level 5BasicTicketed Event
  • Short Course: Active Learning Strategies for Teaching Variant Curation (Part 3 of 3)
    Workshop13:00–15:00Room 514BC/Level 5IntermediateTicketed Event
  • Short Course: UCSC Genome Browser (Part 3 of 3)
    Workshop13:00–15:00Room 515AB/Level 5BasicTicketed Event
  • Best Practices for Working with AI in Variant Interpretation in Clinical Genome Analysis
    Workshop13:00–16:00Room 513DEF/Level 5IntermediateTicketed Event
  • Leadership Development Workshop: Leading from Where You Are
    Workshop13:00–16:00Room 524AB/Level 5Career DevelopmentBasicTicketed Event
16:30–18:15
Opening plenary
2 Plenary

Finding Your Voice in Science: Reflections on Leadership and Resilience

Plenary Abstract Session I

  • Finding Your Voice in Science: Reflections on Leadership and Resilience1 talks ▸
    Plenary16:30–17:00Room 517/Level 5Basic
    1. Susan A. Slaugenhaupt, Massachusetts General Hospital and Harvard Medical School, Professor of Neurology (Session speaker)
  • Plenary Abstract Session I4 talks ▸
    Plenary17:00–18:15Room 517/Level 5Basic
    1. 17:00Automated interpretation of rare disease genomes with deep graph attention
      Aashish Adhikari, Illumina
    2. 17:19A whole-genome immunogenomics framework for African populations: Antigen processing, presentation, and clinically actionable diversity across the HLA, ERAP, TAP, and KIR loci
      Frank Onyambu, Centre for Molecular Biosciences and Genomics, CEO & Research Scientist
    3. 17:38Solving the unsolvable: A systematic multi-omic approach for rare disease diagnosis across Canada
      Zachary Sentell, CHEO Research Institute, Postdoctoral fellow
    4. 17:57CDCT1 Screening in 527K Participants: A 3-year Outcomes Study
      Catherine Hajek, Helix, Medical Director
19:00–20:30
Trainee Reception
Social
  • Trainee Reception
    Social19:00–20:30720 Atrium/Level 7Career DevelopmentTicketed Event

Wed 21 Oct

08:15–09:45
Featured symposia
8 Symposium
  • Adult DNA-Based Population Genomic Screening: Moving from Pilots to Practice7 talks ▸
    Symposium08:15–09:45Room 516BC/Level 5Intermediate
    1. 08:15Introduction
      Kandamurugu Manickam, Nationwide Children's Hospital/Ohio State University College of Medicine
    2. 08:20DNA-based population screening (DNAPS) in adults – Building programs that prepare for the future and learn from the past
      Michael Murray, Mount Sinai Health System
    3. 08:35How do we decide what to screen for? The ClinGen Population Genomic Screening Actionability Framework is here to help
      Adam Buchanan, Geisinger Health System
    4. 08:50Scaling genetics services for population screening: Experiences, outcomes & impacts
      Yvonne Bombard, University of Toronto, Unity Health Toronto, Genetics Adviser
    5. 09:05Implementing population genomics at scale: Global strategy, local reality, and lessons from a 14,000-participant pilot
      Rebecca Rohrer, BUPA
    6. 09:20Panel discussion
    7. 09:40Closing remarks
      Nadav Weinstock, Johns Hopkins School of Medicine
  • Autism Genetics: Integrating Biological Insights with Societal Impacts7 talks ▸
    Symposium08:15–09:45Room 520/Level 5Ethics and Community Engagement (including Genetic Counseling)Basic
    1. 08:15Introduction
      Heini Natri, Translational Genomics Research Institute (TGen), Research Assistant Professor
    2. 08:22Autism genetic testing: Stakeholder perspectives in an era of expanding genomics
      Tielle Gallion, University of Virginia
    3. 08:37Deciphering phenotypic and genetic heterogeneity in autism: Examples from co-occurring neuropsychiatric conditions and quantitative symptoms
      Taylor Thomas, Massachusetts General Hospital
    4. 08:52Personalized medicine and ethical intervention targets: A trait-centric approach to autism genomics research
      Tara Eicher, Harvard T. H. Chan School of Public Health
    5. 09:07Co-creating genetics education resources matched to autism community contexts
      Susan Kuo, Broad Institute of MIT and Harvard
    6. 09:22Panel discussion and Q&A
    7. 09:42Closing remarks
      Alycia Halladay, Autism Science Foundation
  • Beyond GWAS: Translating Human Genetic into Therapeutic Targets and Clinical Development7 talks ▸
    Symposium08:15–09:45Room 517A/Level 5Intermediate
    1. 08:15Introduction
      Shicheng Guo, Arrowhead Pharmaceuticals, Senior Director
    2. 08:20Advancing gene discovery and therapeutic translation through population-scale genomics in global biobanks
      Tony Chen, Massachusetts General Hospital and Broad Institute, Postdoctoral Research Fellow
    3. 08:35Calibrated inference for translating human genetics into high-confidence therapeutic targets
      Jingyi Jessica Li, Fred Hutchinson Cancer Center; University of Washington
    4. 08:50Predicting trial results and informing clinical development with human genetic data: IL-6 signaling as a case study
      Marios Georgakis, Ludwig Maximilian University of Munich, PI
    5. 09:05Genetic prioritization frameworks to inform drug discovery and development
      Ron Do, Icahn School of Medicine at Mount Sinai, Professor
    6. 09:20Panel discussion
    7. 09:40Closing remarks
      Yuming Hu, Wiley (Advanced Genetics & Advanced Science)
  • Genomics of Sex Differences and Reproductive State Across the Life Course: Context, Timing, and Biological Transitions7 talks ▸
    Symposium08:15–09:45Room 511/Level 5Intermediate
    1. 08:15Introduction
      Barbara Stranger, University of Colorado - Anschutz, Professor, Biomedical Informatics
    2. 08:20Altered states: Biological complexity in sex, aging, health, and disease
      John Quackenbush, University of Chicago, Professor of Pediatrics and Human Genetics
    3. 08:35Sex differences in the genetic architecture of clinical quantitative traits in the electronic health record
      Freida Blostein, Icahn School of Medicine at Mount Sinai
    4. 08:50The genetic architecture of reproductive milestones within the lifespans of ancestrally-diverse women from the population architecture using genomics and epidemiology study
      Lindsay Fernandez-Rhodes, The Pennsylvania State University
    5. 09:05Sex modifies APOE ε4 effects on human microglial states across Alzheimer's disease progression
      Carlota Pereda Serras, University of California, San Francisco
    6. 09:20Panel discussion
    7. 09:40Closing remarks
      Audrey Hendricks, University of Colorado Denver
  • Human Mutational Processes Underlying Genomic Signatures, Cancer, and Evolution7 talks ▸
    Symposium08:15–09:45Room 510/Level 5Intermediate
    1. 08:15Introduction
      Evan Koch, Yale University
    2. 08:20Pervasive lesion segregation and genetic background shape cancer evolution
      Sarah Aitken, Yale University, Assistant Professor
    3. 08:36Segregating DNA lesions point to high selective advantage of tumor initiating cells
      Vladimir Seplyarskiy, UT Southwestern Medical Center
    4. 08:52Comparative primate somatic genomics to understand human ageing and cancer risk
      Martin Santamarina Garcia, University of Cambridge, Department of Genetics
    5. 09:08Collateral mutagenesis funnels disparate sources of DNA damage into a ubiquitous mutational signature
      Molly Przeworski, Columbia University
    6. 09:24Panel discussion and Q&A
    7. 09:43Closing remarks
      Javier Maravall-López, Harvard University
  • Integrating AI and Knowledge Graphs for Human Genetics and Beyond: Innovations from the NIH Common Fund Data Ecosystem6 talks ▸
    Symposium08:15–09:45Room 710A/Level 7Intermediate
    1. 08:15Introduction
      Noel Burtt; Lucas Gillenwater, The Broad Institute of MIT and Harvard; University of Colorado Anschutz
    2. 08:25The Bridge2AI Consortium Cell Maps for AI (CM4AI) Project: Accelerating functional genomics within the Common Fund Data Ecosystem
      George Papanicolaou, NIH, Program Leader
    3. 08:40Advancing protein-level insight through the UniProt-Common Fund Data Ecosystem partnership
      Cathy Wu, Georgetown University
    4. 08:55The Common Fund Data Ecosystem Data Distillery Knowledge Graph: Unifying Common Fund insights through structured connectivity
      Deanne Taylor, CHOP/University of Pennsylvania
    5. 09:10REVEAL: AI-enabled synthesis of genetics and mechanism in the Common Fund Data Ecosystem
      Chase Yakaboski, Broad Institute of MIT and Harvard
    6. 09:25Panel discussion
  • The All of Us Research Program At 10 Years: 500,000+ Genomes Advancing Precision Medicine7 talks ▸
    Symposium08:15–09:45Room 517BC/Level 5Basic
    1. 08:15Introduction
    2. 08:20Building to 1 million genomes and more: How All of Us grew to the largest, most diverse public -omics resource and where it is going next
      Tara Dutka, All of Us Research Program at the National Institutes of Health (NIH), Program Director
    3. 08:35Increasing discovery potential by adding multi-omics to the All of Us Research Program dataset
      Niall Lennon, Broad Institute
    4. 08:50Genetic and epigenetic landscape of self-identified Hispanics in All of Us
      Philippe Sanio, Human Genome Sequencing Center, Baylor College of Medicine, Ph.D. Candidate
    5. 09:05Contextualizing and integrating All of Us with other global biobank data in drug discovery
      Jonathan Davitte, GlaxoSmithKline (GSK), Senior Director, Translational Sciences
    6. 09:20Panel discussion
    7. 09:40Closing remarks
  • Unique Considerations for Deceased Human Donor Tissue Biobanks to Support Innovative Genomic Studies6 talks ▸
    Symposium08:15–09:45Room 710B/Level 7Basic
    1. 08:15Introduction
      Stephen Montgomery; Thomas Bell, Standard University School of Medicine; National Disease Research Interchange, Chief Scientific Officer
    2. 08:20Pediatric pathology and metadata management for biobanking
      Patrick Van Hoose, National Disease Research Interchange
    3. 08:40Using fibroblast-derived donor specific assemblies to call somatic mutation in a haplotype-resolved manner- an example of what you can do with a biobank
      Michelle Noyes, Seattle Children's Hospital
    4. 09:00A neurobiobank perspective: Challenges associated with brain banking for large scale projects
      Thomas Blanchard, University of Maryland School of Medicine
    5. 09:20An integrated and cross-collaborative ethical, legal and social implications team model (ELSI 360⁰): Harnessing notes from two large-scale genomic studies involving deceased pediatric and adult donors
      Raquel Hernandez, Johns Hopkins All Children's Hospital
    6. 09:40Closing remarks
      Stephen Montgomery; Thomas Bell, Standard University School of Medicine; National Disease Research Interchange, Chief Scientific Officer
09:45–11:00
Coffee break
2 Industry3 Social
  • Exhibit Hall Activities: Coffee Break, Concessions, Scavenger Hunt, Bark Park, Poster Viewing
    Social09:45–10:45Exhibit & Poster Hall
  • Shared Interest Group Meetup: Genetic Counseling
    Social09:45–10:45Room 524AB/Level 5Ethics and Community Engagement (including Genetic Counseling)
  • Shared Interest Group Meetup: Phenotypes, Genotypes, and Disease Biology
    Social09:45–10:45Room 518/Level 5
  • Revealing the Full Spectrum of Genomics with CoolMPS 600: Longer Read Lengths, Greater Possibilities a CoLab Session Presented by Complete Genomics
    Industry10:15–10:45CoLab Theater 2, Exhibit & Poster Hall
  • Splash & Ripple: A Case Study: Hypoxic Ischemic Encephalopathy - a CoLab Session Presented by Metabolon
    Industry10:15–10:45CoLab Theater 1, Exhibit & Poster Hall
11:00–12:00
Platform sessions
8 Platform
510
Mice, Mutations, and Molecular Mysteries
511
Rare Variants, Big Insights: Illuminating Human Disease Genetics
516BC
The REnAL Deal: Genomic Insights into Kidney Disease
517A
The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges
517BC
Promise and Peril of Sequence-to-Function Models for Variant Effect Predictions
520
Detecting Human Adaptation: Methods, Drivers, and Health Impacts of Natural Selection
710A
Clone Wars: Mutability and Its Consequences
710B
Mapping Genetic Relatedness at Biobank Scale: Uncovering Hidden Signal from Rare Variants to Parent-of-Origin Effects
11:00
Rare variants in LRRFIP1 as a novel cause of severe early-onset scoliosis and common scoliotic phenotypesElena Maria Cabello

Institute of Medical Genetics, University of Zurich

Session: Mice, Mutations, and Molecular Mysteries

Exome sequencing directly implicates 68 genes in inflammatory bowel diseaseMark Daly

The Broad Institute

Session: Rare Variants, Big Insights: Illuminating Human Disease Genetics

The genetics of inherited kidney disease in Africa: Disease-causing variants identified by whole-exome sequencing in a South African cohortKhuthala Mnika

University of Cape Town

Session: The REnAL Deal: Genomic Insights into Kidney Disease

Emerging evidence for genomic newborn screening from over 45,000 newborn genomes from EnglandDalia Kasperaviciute

Genomics England

Session: The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges

Improving gene expression prediction across diverse populationsJoshua Bauman

Johns Hopkins University, Graduate Student

Session: Promise and Peril of Sequence-to-Function Models for Variant Effect Predictions

Multi-ancestry selection and introgression maps in the NIH All of Us BiobankNatthapon Soisangwan

University of Minnesota

Session: Detecting Human Adaptation: Methods, Drivers, and Health Impacts of Natural Selection

Clonal hematopoiesis enables mutational epidemiology at biobank scale: Mutational signatures of 65,000 people connect environment to diseaseYash Pershad

Vanderbilt University

Session: Clone Wars: Mutability and Its Consequences

Cryptic pedigree reconstruction from identity-by-descent maps ultra-rare disease variants at biobank scaleFranco Leonel Marsico

University of Tennessee

Session: Mapping Genetic Relatedness at Biobank Scale: Uncovering Hidden Signal from Rare Variants to Parent-of-Origin Effects

11:15
CNS-directed transferrin receptor-targeted enzyme replacement therapy for β-MannosidosisVirginia Kimonis

UCI

Session: Mice, Mutations, and Molecular Mysteries

Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomesYuxin Yuan

Northeast Normal University

Session: Rare Variants, Big Insights: Illuminating Human Disease Genetics

Longitudinal GWAS reveals the genetic architecture of kidney function across the life course in the population and diseaseIris Heid

University of Regensburg, Department of Genetic Epidemiology

Session: The REnAL Deal: Genomic Insights into Kidney Disease

Genomic newborn screening across diverse genetic ancestries: GUARDIAN screen‑positive rates and variant findings among >19,000 newbornsBritt Johnson

GeneDx, LLC

Session: The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges

In silico saturation mutagenesis of the human genome with AlphaGenome improves variant prioritization and interpretationKyle Taylor

Google DeepMind

Session: Promise and Peril of Sequence-to-Function Models for Variant Effect Predictions

Ancient DNA reveals natural selection upregulating the human immune system over the last 10,000 yearsJavier Maravall-López

Harvard University

Session: Detecting Human Adaptation: Methods, Drivers, and Health Impacts of Natural Selection

Frequency of clonal hematopoiesis mimicking constitutional variants in cancer patients undergoing genetic testingChuan Gao

Memorial Sloan Kettering Cancer Center

Session: Clone Wars: Mutability and Its Consequences

Accurate maternal and paternal haplotype inference reveals new parent-of-origin effects in the Finnish populationThéo Schneider

Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland

Session: Mapping Genetic Relatedness at Biobank Scale: Uncovering Hidden Signal from Rare Variants to Parent-of-Origin Effects

11:30
3D regulatory rewiring of SOX3 by an interchromosomal insertion causes spastic paraplegiaThorkild Terkelsen

Aarhus University

Session: Mice, Mutations, and Molecular Mysteries

Large-scale whole-genome landscape of rare diseases in 15K KoreansYeonsu Jeon

Korea Research Institute of Bioscience and Biotechnology

Session: Rare Variants, Big Insights: Illuminating Human Disease Genetics

Multi-ancestry genome-wide association study meta-analysis on 3.5 million individuals expands the genomic landscape of kidney functionCristian Pattaro

Eurac Research, Institute for Biomedicine

Session: The REnAL Deal: Genomic Insights into Kidney Disease

Rapid panel sequencing and automated pipeline for genetic hearing loss in newborns - The fasT genOmic heAring losS Testing (TOAST) studySierra Rios

Boston Children's Hospital, Clinical Research Assistant

Session: The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges

Independent evaluation reveals advances in AI-driven variant impact prediction: Findings from CAGI 7, the Critical Assessment of Genome InterpretationSteven Brenner

University of California, Berkeley

Session: Promise and Peril of Sequence-to-Function Models for Variant Effect Predictions

Heterogeneous selection signatures across West & Central African populations are associated with cardiometabolic, immune, and renal disease burden in African-ancestry populationsSteven Christopher Jones

Ubiversity of Pennsylvania

Session: Detecting Human Adaptation: Methods, Drivers, and Health Impacts of Natural Selection

Molecular features of disorders of somatic mosaicism: Variant clustering and allele fraction patterns across 1,337 patientsReger Mikaeel

Washington University School of Medicine in St. Louis, Clinical Fellow

Session: Clone Wars: Mutability and Its Consequences

Multi-phenotype high-resolution fast identity-by-descent mapping testHan Chen

New York University

Session: Mapping Genetic Relatedness at Biobank Scale: Uncovering Hidden Signal from Rare Variants to Parent-of-Origin Effects

11:45
Rare, common, and repetitive variants and unexplored genetic features shape complex traits and nominate novel therapeutic targets in 67,609 Japanese whole genomes from Tohoku Medical MegabankTakafumi Ojima

The University of Tokyo

Session: Mice, Mutations, and Molecular Mysteries

MAP3K7 loss-of-function variants cause isolated dilated cardiomyopathyKatherine Josephs

Imperial College London

Session: Rare Variants, Big Insights: Illuminating Human Disease Genetics

Distinct genetic architectures of kidney function decline quantified by multi-state Markov analysis of 3.4 million serial eGFR measurements across 13 health systemsMatthew Levy

Helix

Session: The REnAL Deal: Genomic Insights into Kidney Disease

Estimating false positives in genomic newborn screening using the Generation UK studyAna Acosta Bedón

University of British Columbia

Session: The Evolving Landscape of Genomic Newborn Screening with Global Experience and Emerging Challenges

When to trust a genomic deep learning model: Effect magnitude as an intrinsic confidence signal for personalized expression predictionJoshua Popp

Dana-Farber Cancer Institute, Research Fellow

Session: Promise and Peril of Sequence-to-Function Models for Variant Effect Predictions

A new statistical test for detecting multiple modes of positive selection from ancestral recombination graphsAditya Girish

Cornell University

Session: Detecting Human Adaptation: Methods, Drivers, and Health Impacts of Natural Selection

Multimodal genomic profiling of solid tumors using optical genome mapping, long-read nanopore sequencing, and deep next-generation sequencing: Diagnostic, prognostic, and therapeutic significancesYing Zou

Johns Hopkins University School of Medicine

Session: Clone Wars: Mutability and Its Consequences

Understanding genetic and environmental complexity in phenotypic resemblance across relatedness in population-scale dataMariadaria Ianni-Ravn

University of Chicago

Session: Mapping Genetic Relatedness at Biobank Scale: Uncovering Hidden Signal from Rare Variants to Parent-of-Origin Effects

12:00–13:30
Lunch
Prof. Ed.11 IndustrySocial
  • Exhibit Hall Activities: Concessions, Scavenger Hunt, Bark Park, Poster Viewing
    Social12:00–13:30Exhibit & Poster Hall
  • Ethical and Cultural Implications: Navigating the Future of Genomics Research
    Prof. Ed.12:00–13:30Room 518/Level 5BasicTicketed Event
  • Exploration of natural variation in lead (Pb) sensitivity across donor NPC lines using cell villages a CoLab Session Presented by Waters Biosciences (formerly BD Biosciences)
    Industry12:15–12:45CoLab Theater 2, Exhibit & Poster Hall
  • From methylation to meaning: episignatures with HiFi sequencing a CoLab Session Presented by PacBio
    Industry12:15–12:45CoLab Theater 1, Exhibit & Poster Hall
  • Breaking Up with Beads: Automating DNA Extraction, Cleanup, and Size Selection with DPX NiXTips an Industry Education Session Presented by Hamilton Company
    Industry12:15–13:15Room 519B/Level 5
  • Broad discovery, focused insights: Matching genomic approaches to research questions across cancer, transcriptomics, and pharmacogenomics an Industry Education Session Presented by THERMO FISHER SCIENTIFIC
    Industry12:15–13:15Room 513DEF/Level 5
  • Early Experiences with AXELIOS 1 | Expanding sequencing possibilities in single-cell and whole genome sequencing an Industry Education Session Presented by Roche Sequencing Solutions, Inc.
    Industry12:15–13:15Room 513ABC/Level 5
  • Expanding the genomic toolkit with streamlined long-range and epigenetic insights an Industry Education Session Presented by Illumina
    Industry12:15–13:15Room 512ABCEFG/Level 5
  • From pQTL Mapping to Causal Disease Biology: Proteogenomics Across Tissues and Ancestries an Industry Education Session Presented by Olink Proteomics, a Thermo Fisher company
    Industry12:15–13:15Room 515AB/Level 5
  • How Single Cell Sequencing Reveals the Biology Behind Disease-Associated Variants an Industry Education Session Presented by Parse Biosciences
    Industry12:15–13:15Room 514BC/Level 5
  • The Next Generation Scientist: Acclerating Genomics Research with AI - an Industry Education Session Presented by Amazon Web Services
    Industry12:15–13:15Room 519A/Level 5
  • Decoding Disease Mechanisms with Multimodal Cellular and Spatial Profiling a CoLab Session Presented by Element Biosciences
    Industry13:00–13:30CoLab Theater 2, Exhibit & Poster Hall
  • One cell, two layers: Semi-Permeable Capsules as an architecture for scalable single-cell RNA and DNA co-seq - CoLab Session Presented by Atrandi Biosciences
    Industry13:00–13:30CoLab Theater 1, Exhibit & Poster Hall
13:30–14:30
Lightning talks
6 Lightning
  • Advances in Clinical Genomics in the Era of AI, Long-Read Sequencing, Precision Medicine, and Genomic Care Delivery
    Lightning13:30–14:30Room 710B/Level 7Intermediate
  • Advances in Population Genetics, Genetic Epidemiology, and Omics
    Lightning13:30–14:30Room 517BC/Level 5Intermediate
  • Advancing Precision Oncology with AI, Functional Genomics, and Multi-Omics: From Risk Prediction to Tumor Evolution and Therapeutic Discovery
    Lightning13:30–14:30Room 510/Level 5Intermediate
  • Clinical Genetics Across the Lifespan: From Gene Discovery to Prenatal, Developmental, and Pharmacogenomic Insights
    Lightning13:30–14:30Room 710A/Level 7Intermediate
  • Decoding Genetic Risk Across Ancestry and Sex in Polygenic Disorders
    Lightning13:30–14:30Room 511/Level 5Intermediate
  • Genetic Variation: From Catalogs to Consequences
    Lightning13:30–14:30Room 517A/Level 5Advanced
14:30–16:30
Posters & coffee
17 PostersProf. Ed.13 Industry2 Social
  • Exhibit Hall Activities: Coffee Break, Concessions, Scavenger Hunt, Bark Park, Headshot Lounge, Photo Booth at ASHG Central
    Social14:30–16:30Exhibit & Poster Hall
  • AutoCUTAC: A High-Throughput Platform for Chromatin Profiling in FFPE Tissues a CoLab Session Presented by Miltenyi Biotec
    Industry14:30–15:00CoLab Theater 2, Exhibit & Poster Hall
  • CoLab Session Presented by Seer
    Industry14:30–15:00CoLab Theater 1, Exhibit & Poster Hall
  • Artificial Intelligence and Machine Learning Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Cancer Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Complex Traits and Polygenic Disorders Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Epigenomics Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Evolutionary and Population Genetics Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Genetic Counseling, ELSI, and Education Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Genetic Therapies and Precision Medicine Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Genetic, Genomic, and Epigenomic Resources and Databases Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Health Services Research and Implementation Science Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Laboratory Genetics and Genomics Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Late-Breaking Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Mendelian Phenotypes Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Molecular Effects of Genetic Variation Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Omics Technologies Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Pharmacogenomics Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Prenatal, Perinatal, Reproductive, and Developmental Genetics Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Statistical Genetics and Genetic Epidemiology Poster Wednesday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Speed Mentoring
    Prof. Ed.14:45–16:15Gene-ius Lounge, Exhibit & Poster HallCareer DevelopmentPre-Registration Required
  • A Unified Covaris Workflow for Plasma and FFPE Oncology Specimens: An Automated, Multi-Analyte NGS Solution for Biopharma and Clinical Research an Industry Education Session Presented by Covaris
    Industry15:00–16:00Room 515AB/Level 5
  • Double-dipping: combining 30x WGS with deep WES for affordable, uncompromised coverage an Industry Education Session Presented by Twist Bioscience
    Industry15:00–16:00Room 519A/Level 5
  • Elucidating a novel Fabry disease phenotype for A143T VUS carriers through Labcorp's large-scale real-world genomics data and BioMarin’s clinical expertise an Industry Education Session Presented by Labcorp
    Industry15:00–16:00Room 513DEF/Level 5
  • End-to-End Biomarker Discovery on One Platform: Statistical Genetics and AutoML Applied to GLP-1 Response an Industry Education Session Presented by DNAnexus
    Industry15:00–16:00Room 513ABC/Level 5
  • From Copy Number to Cytogenomic Complexity: Expanding the Reach of lpWGS an Industry Education Session Presented by Meridian Life Science
    Industry15:00–16:00Room 519B/Level 5
  • From variant discovery to biological insights: NGS and multiomics workflows for understanding genetic disease an Industry Education Session Presented by Element Biosciences
    Industry15:00–16:00Room 514BC/Level 5
  • Your next discovery in today's run an Industry Education Session Presented by Oxford Nanopore Technologies
    Industry15:00–16:00Room 512ABCEFG/Level 5
  • Meet the ASHG Editors
    Social15:00–16:00ASHG Central, Exhibit & Poster Hall
  • Complementary Proteomic Approaches for Human Genetics and Multi-Omics a CoLab Session Presented by Olink Proteomics, a Thermo Fisher company
    Industry15:15–15:45CoLab Theater 2, Exhibit & Poster Hall
  • PANDA Ultra: Flexible, Smart, and Scalable Automation for Real-World Genomics Workflows a CoLab Session Presented by Vazyme International LLC
    Industry15:15–15:45CoLab Theater 1, Exhibit & Poster Hall
  • From Cellular States to Spatial Context: Unraveling Cancer Biology with 10x Single Cell & Spatial Technologies - a CoLab Session Presented by 10x Genomics, Inc.
    Industry16:00–16:30CoLab Theater 2, Exhibit & Poster Hall
  • Newborn Genomics, at scale: Screening at Scale, Genome-informed care in the NICU a CoLab Session Presented by SeqOne Inc
    Industry16:00–16:30CoLab Theater 1, Exhibit & Poster Hall
16:30–18:15
Presidential Symposium & awards
Plenary

Awards Recognition & Presidential Symposium: Communicating Science in an Uncertain World: Evidence, Storytelling, and Public Trust

  • Awards Recognition & Presidential Symposium: Communicating Science in an Uncertain World: Evidence, Storytelling, and Public Trust6 talks ▸
    Plenary16:30–18:15Room 517/Level 5Basic
    1. Alex Dainis, Helicase Media, Science Communicator (Session speaker)
    2. Natalie (Talia) Stroud, University of Texas at Austin, Dealey Professor (Session speaker)
    3. Roxanne Khamsi, The Atlantic, Contributing Writer (Session speaker)
    4. Susan A. Slaugenhaupt, Massachusetts General Hospital and Harvard Medical School, Professor of Neurology (Moderator)
    5. Yusuke Nakamura, Lifetime Achievement Award recipient (Award lecture)
    6. Nancy B. Spinner, Mentorship Award recipient (Award lecture)

Thu 22 Oct

08:15–09:45
Platform sessions
8 PlatformProf. Ed.
510
Machine Learning-Driven Approaches to Variant Classification and Prioritization
511
Sequence Models Transforming Genetics and Genomics
516BC
Charting Human Genetic Variation Across Genomes, Populations, and Time
517A
Chromatin in Motion: Epigenetic Control of Brain Development and Disease
517BC
The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic
520
New Adventures in Molecular Trait Mapping
710A
From Labels to Landscapes: Leveraging Local Ancestry and the Ancestry Continuum to Maximize Cross-Ancestry Association
710B
Genetic Associations and Mechanisms in Cardiovascular Disease
08:15
Closing the equity gap in variant classification: Machine learning-driven evidence demonstrates differential impact across race and ethnicityYuya Kobayashi

Labcorp

Session: Machine Learning-Driven Approaches to Variant Classification and Prioritization

Predicting the molecular effects of common and rare variants across observed and unobserved biological contextsGraham McVicker

Salk Institute for Biological Studies

Session: Sequence Models Transforming Genetics and Genomics

What shapes early post-zygotic mutation burden? Family and parental age effects in nearly 1000 individuals from the large, four-generation CEPH/Utah pedigreesCamila Goclowski

University of Utah Department of Human Genetics

Session: Charting Human Genetic Variation Across Genomes, Populations, and Time

A large-scale Perturb-seq map of haploinsufficient neurodevelopmental disorder genes in iPSC-derived neurons reveal convergence and divergence in transcriptional programsKhoa Dao

Baylor College of Medicine

Session: Chromatin in Motion: Epigenetic Control of Brain Development and Disease

Association analyses from Oxford Nanopore long read sequenced genomes of UK Biobank participantsBjarni Halldorsson

Amgen deCODE genetics, Scientific Associate Director

Session: The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic

An atlas of single cell eQTLs across multiple ancestries and different cell type annotationsDajiang Liu

Pennsylvania State University

Session: New Adventures in Molecular Trait Mapping

Computationally efficient local ancestry-aware GWAS with GPU accelerationFranklin Ockerman

University of North Carolina at Chapel Hill

Session: From Labels to Landscapes: Leveraging Local Ancestry and the Ancestry Continuum to Maximize Cross-Ancestry Association

Largest GWAS meta-analysis across congenital heart disease phenotypes identifies phenotype-specific loci and novel developmental candidate genesBruce Gelb

Icahn School of Medicine at Mount Sinai

Session: Genetic Associations and Mechanisms in Cardiovascular Disease

08:30
predNMD: Prediction of nonsense-mediated mRNA decay for improved clinical variant pathogenicity classificationYaqi Su

University of California, Berkeley

Session: Machine Learning-Driven Approaches to Variant Classification and Prioritization

A multi-modal nanopore foundation model enables de novo single-molecule discovery of DNA and RNA modificationsMian Umair Ahsan

Children's Hospital of Philadelphia

Session: Sequence Models Transforming Genetics and Genomics

Population-scale Y chromosome assemblies reveal constrained remodeling across 180,000 years of human evolutionPille Hallast

The Jackson Laboratory for Genomic Medicine

Session: Charting Human Genetic Variation Across Genomes, Populations, and Time

Deep learning and massively parallel reporter assays determine non-coding risk for autism spectrum disorderNicholas Page

UCSF

Session: Chromatin in Motion: Epigenetic Control of Brain Development and Disease

Haplotype-resolved structural variation and functional consequences across ancestrally diverse human populationsJonas Gustafson

University of Washington, Graduate Student

Session: The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic

Scalable fine-mapping of single-cell eQTL data using variational count-based modelsYifei Dai

University of Southern California

Session: New Adventures in Molecular Trait Mapping

Moving beyond population labels: Personalizing polygenic risk scores with genetic neighborsKaren Feng

Stanford University

Session: From Labels to Landscapes: Leveraging Local Ancestry and the Ancestry Continuum to Maximize Cross-Ancestry Association

Whole-genome sequencing atlas of cardiac and adiposity imaging traits reveals shared and distinct genetic architectures and nominates therapeutic candidates for cardiometabolic diseaseHsuan Megan Tsao

McGill University

Session: Genetic Associations and Mechanisms in Cardiovascular Disease

08:45
Evaluating performance and reproducibility of generative artificial intelligence models for autonomous variant classificationDianne Keen-Kim

Natera, Inc.

Session: Machine Learning-Driven Approaches to Variant Classification and Prioritization

HiVerse: A multi-resolution genomic language model atlas integrating 5-methylcytosine for tissue- and cell-type-specific epigenome and transcriptome predictionSeung-Jin Park

Korea Research Institute of Bioscience & Biotechnology

Session: Sequence Models Transforming Genetics and Genomics

Ancient and present-day genomes reveal dual origins of Denisovan ancestry in Mainland Southeast AsiaLu Chen

Fudan University

Session: Charting Human Genetic Variation Across Genomes, Populations, and Time

Loss of Bap1 disrupts enhancer activity and 3D genome organization in the developing brainChallana Tea

University of California, San Diego

Session: Chromatin in Motion: Epigenetic Control of Brain Development and Disease

Haplotype-resolved genomics at biobank scale in ~12,500 participants from the All of Us Research ProgramFabio Cunial

Broad Institute of MIT and Harvard, Computational Scientist

Session: The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic

The developmental GTEx resource enables the discovery of disease-associated genesVincent Lam

University of Chicago

Session: New Adventures in Molecular Trait Mapping

Decomposing cross-ancestry Mendelian randomization bias into structural, statistical, and architectural components: Robust estimators resolve most cross-ancestry attenuationJue Sheng Ong

QIMR Berghofer

Session: From Labels to Landscapes: Leveraging Local Ancestry and the Ancestry Continuum to Maximize Cross-Ancestry Association

Sex-stratified cross-ancestry GWAS of coronary artery disease identifies shared and sex-specific genetic effectSatoshi Koyama

Broad Institute of MIT and Harvard, Postdoctral Fellow

Session: Genetic Associations and Mechanisms in Cardiovascular Disease

09:00
Unlocking 5'UTR variant interpretation in 500,000 UK Biobank genomesMatthieu Chaldebas

The University of Texas Southwestern

Session: Machine Learning-Driven Approaches to Variant Classification and Prioritization

Big models cheat, small models learn: Interpretable splice-site prediction with AnglerHaoshengzhe Yu

The University of Chicago

Session: Sequence Models Transforming Genetics and Genomics

Depletion of Neanderthal ancestry on the X chromosome reflects overlapping effects of sex bias, selection, and driftAaron Pfennig

Princeton University, Lewis-Sigler Institute for Integrative Genomics, Postdoc

Session: Charting Human Genetic Variation Across Genomes, Populations, and Time

Time-course Perturb-seq of epigenetic regulators reveal convergence on autism-risk transcriptional programs during neurodevelopmentKasper Hansen

Johns Hopkins University

Session: Chromatin in Motion: Epigenetic Control of Brain Development and Disease

The Human Pangenome Project: A new foundation for human genomicsKaren Miga

University of California, Santa Cruz, Associate Professor

Session: The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic

From eQTL to function: Dissecting genetic control of Treg suppressionOlivier Bakker

Wellcome Sanger Institute

Session: New Adventures in Molecular Trait Mapping

Betanfer: Estimation of linkage disequilibrium from GWAS summary statistics enables large-scale cross-biobank fine mappingMitchell Conery

AbbVie, Senior Scientist I

Session: From Labels to Landscapes: Leveraging Local Ancestry and the Ancestry Continuum to Maximize Cross-Ancestry Association

Mapping the genetic landscape of circulating fatty acids through integrative multi-trait GWAS analysis and single-cell CRISPRi screeningKaixiong Ye

University of Georgia

Session: Genetic Associations and Mechanisms in Cardiovascular Disease

09:15
Continuous clinical prioritization of copy number variants (CNVs) through dynamic feature reconstructionRobert Kueffner

GeneDx

Session: Machine Learning-Driven Approaches to Variant Classification and Prioritization

Long read RNA sequencing in primary lung cell types reveals functional principles and accurate sequence-based prediction of nonsense-mediated decayPeter Castaldi

Brigham and Women's Hospital

Session: Sequence Models Transforming Genetics and Genomics

Beyond population labels: A continuous PCA-based framework for ancestry-aware population genomics statistics in gnomADLuke Anderson-Trocmé

Université de Montréal

Session: Charting Human Genetic Variation Across Genomes, Populations, and Time

Haplotype-resolved long-read chromatin mapping reveals regulatory impacts of structural variationSean McGinty

University of California, Davis

Session: Chromatin in Motion: Epigenetic Control of Brain Development and Disease

Population-scale long-read sequencing for medical genomics: A UK population curated genomic dataset from NIHR BioResourceKathleen Stirrups

NIHR BioResource/ University of Cambridge, NIHR BioResource Samples Team Lead

Session: The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic

Local ancestry differentially impacts protein quantitative trait locus estimation in an ancestrally admixed cohortJoshua Landman

Vanderbilt University Medical Center

Session: New Adventures in Molecular Trait Mapping

Maximizing genetic association power across the ancestry continuum in large-scale biobanks and cohortsWei Zhou

Massachusetts General Hospital

Session: From Labels to Landscapes: Leveraging Local Ancestry and the Ancestry Continuum to Maximize Cross-Ancestry Association

Single-cell profiling of genetic risk for cardiovascular disease in endothelial cell ‘populations-in-a-dish’ under athero-prone and athero-protective shear stressAnna Golebiewski

University of Arizona

Session: Genetic Associations and Mechanisms in Cardiovascular Disease

09:30
VCEPilot: Agentic AI execution of ClinGen VCEP specifications achieves expert-aligned variant classificationXun Song

New Jersey Institute of Technology, graduate research assistant

Session: Machine Learning-Driven Approaches to Variant Classification and Prioritization

Deep variational models for genome-wide fine-mapping of thousands of complex and molecular traits with cell-type-specific, machine-learning-derived annotationsDavid Wang

Calico Life Sciences LLC

Session: Sequence Models Transforming Genetics and Genomics

Quantifying individual genetic variation using data from >900,000 whole-genome sequences: Implications for screeningCaroline Wright

Department of Clinical and Biomedical Sciences, University of Exeter Medical School

Session: Charting Human Genetic Variation Across Genomes, Populations, and Time

BRPF1 haploinsufficiency disrupts Wnt signaling during human neurodevelopmentManeesha Thaker

University of California, Los Angeles

Session: Chromatin in Motion: Epigenetic Control of Brain Development and Disease

Clinical long-read genome sequencing for rare disease diagnostics – a prospectively designed study of 1,000 genomesLydia Sagath

Radboud university medical center, Post-doctoral researcher

Session: The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic

Dissecting genetic effects on gene regulatory mechanisms with single-molecule footprintingKaixuan Luo

University of Chicago

Session: New Adventures in Molecular Trait Mapping

Genome-wide LD scores allow robust heritability and genetic correlation from summary statistics across ancestriesMoonseong Jeong

University of California, Los Angeles

Session: From Labels to Landscapes: Leveraging Local Ancestry and the Ancestry Continuum to Maximize Cross-Ancestry Association

A CAD-associated SNP in the 9p21.3 region regulates the expression of MIR31HG, modulating the expression of several atherosclerosis-related genesArtemy Zhigulev

Karolinska Institutet

Session: Genetic Associations and Mechanisms in Cardiovascular Disease

  • Prof. Ed.Innovation Through Adversity: How Global Genomics Partnerships Are Evolving to Meet New Challenges08:15–09:30Room 518/Level 5
09:45–11:00
Coffee break
Prof. Ed.2 Industry3 Social
  • Exhibit Hall Activities: Coffee Break, Concessions, Scavenger Hunt, Bark Park, Poster Viewing
    Social09:45–10:45Exhibit & Poster Hall
  • Community Conversations: Engagement and Belonging
    Social09:45–10:45Room 524AB/Level 5Ethics and Community Engagement (including Genetic Counseling)
  • Shared Interest Group Meetup: Computational Genomics, AI, and Statistical Genetics
    Social09:45–10:45Room 518/Level 5
  • NHGRI 2026 Status Updates: What Researchers Need to Know
    Prof. Ed.10:00–10:45Room 517BC/Level 5
  • Comprehensive genomes, faster answers with HiFi WGS for clinical research a CoLab Session Presented by PacBio
    Industry10:15–10:45CoLab Theater 1, Exhibit & Poster Hall
  • From Tens of Millions of Cells to Mechanism: Practical Workflows for Single-Cell and Spatial Transcriptomics a CoLab Session Presented by Advaita Bio
    Industry10:15–10:45CoLab Theater 2, Exhibit & Poster Hall
11:00–12:00
Platform sessions
8 Platform
510
Genomic Insights Across Reproductive Medicine and Prenatal Diagnosis
511
Cross-Disease Insights into Neuropsychiatric and Neurodegenerative Disorders
516BC
New Frontiers in Mitochondrial DNA Research
517A
Uptown Funk(tion): Don’t Believe Me, Just Perturb
517BC
Pivoting from Gene-Level Analyses to Isoform-Resolved Biology
520
Gene Regulatory Networks Across Development, Evolution, and Disease
710A
Polygenic Risk Score: From Modeling to Clinical Decision
710B
Cancer Susceptibility: Germline Effects on Risk, Mechanisms, and Mutations
11:00
Genetic architecture and fitness costs of chromosomal abnormalities from 99,765 products of conceptionArjun Biddanda

Johns Hopkins University, Research Fellow

Session: Genomic Insights Across Reproductive Medicine and Prenatal Diagnosis

Cell-type-resolved multiomic mapping of bipolar disorder risk in the human subgenual anterior cingulate cortexLyra Sheu

Icahn School of Medicine at Mt Sinai, PhD Candidate

Session: Cross-Disease Insights into Neuropsychiatric and Neurodegenerative Disorders

Scaling mitochondrial variant calling in 30x short-read whole-genome sequencing for 535,000 All of Us Research Program participantsJessica Way

Broad Institute of MIT and Harvard

Session: New Frontiers in Mitochondrial DNA Research

Functional dissection of promoter-proximal short tandem repeats reveals sequence class-specific regulatory mechanismsXuan Zhang

University of California San Diego

Session: Uptown Funk(tion): Don’t Believe Me, Just Perturb

Developmental splicing dynamics across human and non-human primate tissues in dGTEx and NHP-dGTExLaura Domènech

Broad Institute of MIT and Harvard

Session: Pivoting from Gene-Level Analyses to Isoform-Resolved Biology

From human to mouse and back: Leveraging CNVs, GWAS, and in vivo experiments to uncover non-coding SHOX enhancersChiara Auwerx

Massachusetts General Hospital

Session: Gene Regulatory Networks Across Development, Evolution, and Disease

RICEx integrates common and rare variants from summary statistics for multi-trait, multi-ancestry risk predictionHaoyu Zhang

National Cancer Institute

Session: Polygenic Risk Score: From Modeling to Clinical Decision

Germline polygenic susceptibility shapes somatic mutational signatures across common cancersIiris Pitko

Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Doctoral researcher

Session: Cancer Susceptibility: Germline Effects on Risk, Mechanisms, and Mutations

11:15
A comprehensive noninvasive fetal sequencing (NIFS) test reproduces 97.2% of fetal diagnoses identified by invasive diagnostic sequencingMichael Duyzend

Session: Genomic Insights Across Reproductive Medicine and Prenatal Diagnosis

Single-cell gene expression heritability informed by gene × cell-state interactionsLida Wang

Dana-Farber Cancer Institute and Harvard Medical School

Session: Cross-Disease Insights into Neuropsychiatric and Neurodegenerative Disorders

Discovery and characterization of nuclear mitochondrial insertions across human tissuesBrandt Bessell

University of Michigan

Session: New Frontiers in Mitochondrial DNA Research

High-throughput profiling of macromolecular interaction perturbations in human genetic disordersChantal Nyirakanani

Dana-Farber Cancer Institute

Session: Uptown Funk(tion): Don’t Believe Me, Just Perturb

The ageing human transcriptome: Longitudinal long-read RNA-sequencing in blood uncovers multi-level changes in isoform usageMax Tomlinson

King's College London, Dr

Session: Pivoting from Gene-Level Analyses to Isoform-Resolved Biology

Resolving the regulatory impact of non-coding disease risk alleles throughout human embryogenesis by single-cell multiomic profiling of advanced stem cell-derived models of post-implantation embryosKyra Fetter

University of Washington, PhD Student

Session: Gene Regulatory Networks Across Development, Evolution, and Disease

A scalable penalized regression framework improves accuracy and efficiency in multi-ancestry polygenic predictionHongji Wu

Huazhong University of Science and Technology

Session: Polygenic Risk Score: From Modeling to Clinical Decision

Real-world multi-ancestry sequencing uncovers germline determinants of somatic driver selection and cancer progressionJian Carrot-Zhang

Memorial Sloan Kettering Cancer Center

Session: Cancer Susceptibility: Germline Effects on Risk, Mechanisms, and Mutations

11:30
Resolution of population structure affects carrier frequency estimates and the number of genes meeting ACMG tier 3 carrier screening panel criteriaCarla Marquez-Luna

Labcorp

Session: Genomic Insights Across Reproductive Medicine and Prenatal Diagnosis

Short- and long-read RNA sequencing revealed RNA fusions contributing to amyotrophic lateral sclerosisHuilin Xu

Massachusetts General Hospital, Postdoc Research Fellow

Session: Cross-Disease Insights into Neuropsychiatric and Neurodegenerative Disorders

Mitochondrial DNA variation shapes the human blood proteome and metabolome, highlighting ER stress, oxidative muscle biology, and pyruvate metabolismKyler McKessy

johns hopkins university school of medicine

Session: New Frontiers in Mitochondrial DNA Research

Multimodal functional data reveals pathogenicity, pathomechanism, and genotype-phenotype relationships for ~75,000 MAP kinase signaling pathway variantsShawn Fayer

University of Washington

Session: Uptown Funk(tion): Don’t Believe Me, Just Perturb

Long-read RNA sequencing reveals genetic effects on isoform expression in a globally diverse sampleMargaret Starostik

Johns Hopkins University, Postdoc

Session: Pivoting from Gene-Level Analyses to Isoform-Resolved Biology

Cis and trans contributions to cell type-specific regulatory evolution in primatesHsin-Chiao Huang

University of Chicago

Session: Gene Regulatory Networks Across Development, Evolution, and Disease

Polygenic Risk Methods Development (PRIMED) Consortium advances polygenic risk scores for diverse traits and ancestries by federated analysis of multiple large-scale biobanksJulie-Alexia Dias

Harvard University

Session: Polygenic Risk Score: From Modeling to Clinical Decision

Gene-specific cancer patterns among pathogenic germline variant carriersGideon Idumah

Cleveland Clinic Research

Session: Cancer Susceptibility: Germline Effects on Risk, Mechanisms, and Mutations

11:45
Perspectives of exome or genome sequencing as the first tier test in unexplained spermatogenic failureMaris Laan

University of Tartu, Institute of Biomedicine and Translational Medicine

Session: Genomic Insights Across Reproductive Medicine and Prenatal Diagnosis

Large-scale perturbational analysis of schizophrenia-associated genes in human neurons reveals the transcriptional consequences and convergence of disease genes and lociBoxun Li

Duke University

Session: Cross-Disease Insights into Neuropsychiatric and Neurodegenerative Disorders

Age- and tissue-dependent dynamics of mtDNA alterations clarify optimal specimen selection for clinical mitochondrial testingYue Wang

Baylor College of Medicine

Session: New Frontiers in Mitochondrial DNA Research

Immune context unmasks regulatory effects of Neanderthal and Denisovan introgressionMaxime Rotival

Institut Pasteur

Session: Uptown Funk(tion): Don’t Believe Me, Just Perturb

Single-cell full-length transcriptome of human lung reveals genetic effects on isoform regulation beyond gene-level expressionBolun Li

National Cancer Institute, postdoctoral fellow

Session: Pivoting from Gene-Level Analyses to Isoform-Resolved Biology

Loss of conserved regulatory elements in human brain evolutionAshlyn Anderson

HudsonAlpha Institute for Biotechnology

Session: Gene Regulatory Networks Across Development, Evolution, and Disease

Prospective performance of genetic and clinical risk prediction models to inform risk-based breast cancer screening: Experience from the WISDOM studyYiwey Shieh

Weill Cornell Medicine, Assistant Professor

Session: Polygenic Risk Score: From Modeling to Clinical Decision

Single-cell lung eQTL dataset of Asian never-smokers highlights the roles of alveolar cells in lung cancer etiologyThong Luong

National Cancer Institute

Session: Cancer Susceptibility: Germline Effects on Risk, Mechanisms, and Mutations

12:00–13:30
Lunch
Prof. Ed.11 IndustrySocial
  • Exhibit Hall Activities: Concessions, Scavenger Hunt, Bark Park, Poster Viewing
    Social12:00–13:30Exhibit & Poster Hall
  • Career Development Networking Luncheon
    Prof. Ed.12:00–13:30Room 518/Level 5Career DevelopmentTicketed Event
  • CoLab Session Presented by Arima Genomics
    Industry12:15–12:45CoLab Theater 1, Exhibit & Poster Hall
  • Reducing PCR-Mediated Index Misassignment in Hybrid-Capture cDNA Libraries with Adaptive Amplification a CoLab Session Presented by n6
    Industry12:15–12:45CoLab Theater 2, Exhibit & Poster Hall
  • Advancing Precision Genomics: From Cancer Detection to AI-Driven Whole-Genome Analysis a Industry Education Session Presented by Complete Genomics
    Industry12:15–13:15Room 514BC/Level 5
  • Cases We Almost Missed - Solved with Long-Reads an Industry Education Session Presented by Lucid Genomics
    Industry12:15–13:15Room 513ABC/Level 5
  • Experience from uncovering insights from difficult regions and challenging samples with high performing, simplified KAPA Sample Preparation Solutions an Industry Education Session Presented by Roche Sequencing Solutions, Inc.
    Industry12:15–13:15Room 519B/Level 5
  • HiFi Genomics at Scale: Discovery, Delivery, and Impact an Industry Education Session Presented by PacBio
    Industry12:15–13:15Room 513DEF/Level 5
  • NEBNext Epigenomic Solutions Driving Multiomic Insight an Industry Education Session Presented by New England Biolabs
    Industry12:15–13:15Room 515AB/Level 5
  • The Power of Multi-Omics Integration in Uncovering Mechanisms of Human Disease, an Industry Education Session Presented by Agilent Technologies
    Industry12:15–13:15Room 519A/Level 5
  • When Data Connects, Biology Becomes Clear: Revealing Human Disease Through Multiomics an Industry Education Session Presented by Illumina
    Industry12:15–13:15Room 512ABCEFG/Level 5
  • Adaptive Sampling in action: Targeted answers, genome-wide insights a CoLab Session #1 Presented by Oxford Nanopore Technologies
    Industry13:00–13:30CoLab Theater 1, Exhibit & Poster Hall
  • Nomic Bio Proteomic Assays in EPIC: Proteogenomics, Lifestyle, and Prostate Cancer Risk a CoLab Session Presented by Nomic Bio
    Industry13:00–13:30CoLab Theater 2, Exhibit & Poster Hall
13:30–14:30
Platform sessions
6 PlatformSocial
510
Lessons from Real-World Clinical Sequencing Across Neurodevelopmental, Neurological, and Movement Disorders
511
Elucidating Structural Variation in Human Health and Disease
516BC
Global and Cultural Perspectives on Genomic Risk and Implementation
520
Leveraging Pharmacogenomics for Drug Trial-Level Evidence
710A
Integrative Genomics of Immune Regulation Across Infection, Inflammation, and the Lifespan
710B
EHR-Based Computational and AI Approaches in Clinical Genetics
13:30
Factors influencing molecular diagnostic yield in a clinical autism exome sequencing cohort of over 68,000 individualsKendall King

GeneDx

Session: Lessons from Real-World Clinical Sequencing Across Neurodevelopmental, Neurological, and Movement Disorders

gnomAD-LR: A population-scale, long read reference resource for variant discovery and haplotype-resolved episignaturesXuefang Zhao

Broad Institute, Senior Computational Scientist

Session: Elucidating Structural Variation in Human Health and Disease

Final results of a randomized non-inferiority trial evaluating digital return of actionable genetic research results as compared to return by a genetic counselor (RESPECT3)Angela Bradbury

University of Pennsylvania

Session: Global and Cultural Perspectives on Genomic Risk and Implementation

Thiazide diuretics are associated with reduced risk of incident dementia: A phenomic-genomic study in All of Us, Mount Sinai Million, and UK BiobankSlavina Goleva

National Human Genome Research Institue, Postdoctoral Research Fellow

Session: Leveraging Pharmacogenomics for Drug Trial-Level Evidence

Dynamic genetic regulation of immune gene expression across inflammatory and infectious disease contexts revealed by single-cell eQTLsJennifer Astley

Kennedy Institute of Rheumatology, Oxford University

Session: Integrative Genomics of Immune Regulation Across Infection, Inflammation, and the Lifespan

Applying a phenotype risk score to expedite identification of heart failure patients at risk for variant transthyretin cardiac amyloidosisJames Johnson

Mount Sinai Hospital, Internal Medicine Resident

Session: EHR-Based Computational and AI Approaches in Clinical Genetics

13:45
Hereditary neurological disorders in Mali, West Africa: Findings from a 12-year research experienceGuida Landouré

Université des Sciences, des Techniques et des Technologies de Bamako, Professor of Neurology

Session: Lessons from Real-World Clinical Sequencing Across Neurodevelopmental, Neurological, and Movement Disorders

Characterization of de novo structural variants in 1,561 trios with orofacial cleftsElizabeth Leslie-Clarkson

Emory University

Session: Elucidating Structural Variation in Human Health and Disease

Germline predisposition and re-evaluating age-based screening criteria across Asian ethnicities: A 12-year inception cohort study of 10,616 hereditary cancer patientsMengyuan Yang

National Cancer Centre Singapore

Session: Global and Cultural Perspectives on Genomic Risk and Implementation

Rare GLP1R variants selectively attenuate weight loss with semaglutide but not tirzepatide, implicating GIP receptor agonism as a compensatory mechanismKelly Schiabor Barrett

Helix

Session: Leveraging Pharmacogenomics for Drug Trial-Level Evidence

Viral stimulation reveals age- and sex-dependent transcriptional programs shaped by genetics and evolutionary constraintMarwan Sharawy

Pasteur Institue

Session: Integrative Genomics of Immune Regulation Across Infection, Inflammation, and the Lifespan

A multimodal agentic knowledge graph system for screening undiagnosed transthyretin amyloid cardiomyopathyPankhuri Singhal

University of Pennsylvania

Session: EHR-Based Computational and AI Approaches in Clinical Genetics

14:00
Gene-STEPS: Rapid genome sequencing improves diagnostic yield and management for infants with epilepsyGregory Costain

Hospital for Sick Children (SickKids) and University of Toronto

Session: Lessons from Real-World Clinical Sequencing Across Neurodevelopmental, Neurological, and Movement Disorders

HiFi long read genome sequencing after negative clinical exome sequencing in a consecutive cohort increases diagnostic yieldsSara Kalla

Ambry Genetics

Session: Elucidating Structural Variation in Human Health and Disease

Clinical genomics in Africa: A CFIR-informed hybrid model for neurodevelopmental disorders in CameroonKaren Kengne Kamga

Regional Hospital Limbe, University of Yaounde 1, Cameroon

Session: Global and Cultural Perspectives on Genomic Risk and Implementation

Genetic negative control reveals confounders and disease subtypes in drug trial emulationsPatrick Gibbs

Univeristy of Cambridge

Session: Leveraging Pharmacogenomics for Drug Trial-Level Evidence

Genetic architecture of lung cell-type specific gene expression and cell-cell interaction patterns underlying idiopathic pulmonary fibrosisAvantika Diwadkar

Penn State College of Medicine

Session: Integrative Genomics of Immune Regulation Across Infection, Inflammation, and the Lifespan

Systematic evaluation of diagnostic delay in rare disease in an electronic health systems and the United StatesRory Tinker

Mount Sinai

Session: EHR-Based Computational and AI Approaches in Clinical Genetics

14:15
Diagnostic yield of genome sequencing for individuals with movement disordersElizabeth Fieg

Baylor Genetics

Session: Lessons from Real-World Clinical Sequencing Across Neurodevelopmental, Neurological, and Movement Disorders

Surveying the structural variant landscape in genetic testing: Prevalence and diagnostic yield in a clinical cohort of 1.8 million individualsYi-Lee Ting

Labcorp

Session: Elucidating Structural Variation in Human Health and Disease

Living with the unknown: Longitudinal psychosocial outcomes of VUS and variant reclassification in clinical oncologySukh Makhnoon

UT Southwestern Medical Center

Session: Global and Cultural Perspectives on Genomic Risk and Implementation

Trial entry, not genetics: Collider bias can create apparent PRS-modified treatment responseMatthew Tudball

5 Prime Sciences

Session: Leveraging Pharmacogenomics for Drug Trial-Level Evidence

Differential methylation patterns in nasal mucosa linked to asthmatic and chronic stress phenotypes in the pediatric Black communityKatherine Hanson

Children's Mercy, Post Doctoral Research Scholar

Session: Integrative Genomics of Immune Regulation Across Infection, Inflammation, and the Lifespan

Predicting cancer type progression in dermatomyositis patients using large language model-derived embeddings and multi-label machine learning classifiersHabiba Abdelhalim

Penn State College of Medicine

Session: EHR-Based Computational and AI Approaches in Clinical Genetics

  • SocialCommunity Conversations: Scientific Communication13:30–14:15Room 519A/Level 5
14:30–16:15
Plenary abstracts II & awards
Plenary

Awards Recognition & Plenary Abstract Session II

  • Awards Recognition & Plenary Abstract Session II7 talks ▸
    Plenary14:30–16:15Room 517/Level 5Intermediate
    1. 14:30Genetic drivers of Human Leukocyte Antigen (HLA) regulatory variation across the pangenome
      Annelise Mah-Som, University of Washington, Clinician Researcher
    2. 14:49Charting mutation heterogeneity across human tissues: Early results from SMaHT
      Alexej Abyzov, Mayo Clinic, Professor of Biomedical Informatics
    3. 15:08Long-read sequencing reveals telomere inheritance patterns across human trios and fetal-parental quads with sperm
      Yuxin Zhou, McGill University, Ph.D. Candidate
    4. 15:27Coding and noncoding risk variants for congenital heart defects map to gene regulatory networks in valve cells
      Jesse Engreitz, Stanford University, Assistant Professor
    5. Aravinda Chakravarti, PhD, Leadership Award recipient (Award recognition)
    6. Rebecca Ahrens-Nicklas, MD, PhD, Early Career Award recipient (Award recognition)
    7. Winners of the AJHG Award for Outstanding Trainee Publication and HGGA Award for Outstanding Early Career Publication are also recognized
16:15–18:15
Posters & Snacks & SNPs
17 Posters6 Industry2 Social
  • Snacks & SNPs: Afternoon PowerUP
    Social16:15–18:15Exhibit & Poster Hall
  • Beyond the Genome: Proteomics and the Next Layer of Disease Biology a CoLab Session Presented by Illumina
    Industry16:15–16:45CoLab Theater 1, Exhibit & Poster Hall
  • From bottlenecks to breakthroughs: Unlocking high-quality WGS at scale a CoLab Session Presented by Watchmaker Genomics
    Industry16:15–16:45CoLab Theater 2, Exhibit & Poster Hall
  • Artificial Intelligence and Machine Learning Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Cancer Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Complex Traits and Polygenic Disorders Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Epigenomics Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Evolutionary and Population Genetics Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Genetic Counseling, ELSI, and Education Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Genetic Therapies and Precision Medicine Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Genetic, Genomic, and Epigenomic Resources and Databases Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Health Services Research and Implementation Science Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Laboratory Genetics and Genomics Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Late-Breaking Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Mendelian Phenotypes Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Molecular Effects of Genetic Variation Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Omics Technologies Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Pharmacogenomics Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Prenatal, Perinatal, Reproductive, and Developmental Genetics Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Statistical Genetics and Genetic Epidemiology Poster Thursday Session
    Posters16:15–18:15Exhibit & Poster Hall
  • Electronic Genome Mapping in Hematologic Malignancies: Bridging Cytogenetics and Molecular Genomics a CoLab Session Presented by Nabsys / Hitachi
    Industry17:00–17:30CoLab Theater 1, Exhibit & Poster Hall
  • Genetic Discovery at Population Scale: What Becomes Possible with 11 Million Research Participants a CoLab Session Presented by 23andMe Research Institute
    Industry17:00–17:30CoLab Theater 2, Exhibit & Poster Hall
  • Meet the ASHG Editors
    Social17:00–18:00ASHG Central, Exhibit & Poster Hall
  • Cost-Effective NGS Automation: A Modular Approach to Low-Throughput Illumina DNA Prep a CoLab Session Presented by Hamilton Company
    Industry17:45–18:15CoLab Theater 1, Exhibit & Poster Hall
  • Unlocking difficult-to-resolve genomic regions with long reads and dedicated tools a CoLab Session #2 Presented by Oxford Nanopore Technologies
    Industry17:45–18:15CoLab Theater 2, Exhibit & Poster Hall

Fri 23 Oct

08:15–09:45
Featured symposia
8 Symposium
  • AI Across the Diagnostic Odyssey: From Variant Interpretation to Computable Phenotypes7 talks ▸
    Symposium08:15–09:45Room 517A/Level 5Intermediate
    1. 08:15Introduction
      Mullai Murugan; Laurens van de Wiel, Baylor College of Medicine; Stanford University
    2. 08:20Using specialist AI to identify variants in DNA sequence data and generalist AI to predict effects
      Andrew Carroll, Google
    3. 08:35Agentic reasoning across genomes, RNA, and phenotype for rare disease diagnosis
      Zhandong Liu, Baylor College of Medicine
    4. 08:50Precision automated phenotyping for genomic discovery and clinical translation
      Jennifer Posey, Columbia University Irving Medical Center
    5. 09:05From clinical phenotypes to mechanism: AI-based atratification of patients for genomic discovery
      Megan Pearson, University of Colorado Anschutz, Predoctoral Trainee
    6. 09:20Panel discussion and Q&A
    7. 09:40Closing remarks
      Mullai Murugan; Laurens van de Wiel, Baylor College of Medicine; Stanford University
  • Emergence of Complex Traits at the Intersection of Genomics, Exposomic, and Time6 talks ▸
    Symposium08:15–09:45Room 511/Level 5Intermediate
    1. 08:15Introduction
      Hugues Aschard; Annaïg De Walsche, Institut Pasteur; Institut Pasteur
    2. 08:20Gene-environment interactions shape complex disease and trait architecture
      Arun Durvasula, University of Southern California, Assistant Professor
    3. 08:40High-dimensional exposomics: Enabling systematic gene–environment discovery
      Wending Li, Columbia University, Postdoctoral Research Scientist
    4. 09:00Gene-environment in gene regulation mediates phenotypic plasticity over changing environments
      Francesca Luca, University of Chicago, Professor of Human Genetics
    5. 09:20Do modern diseases arise from genomes living in the past?
      Kristina Garske, University of California, Berkeley
    6. 09:40Closing remarks
      Hugues Aschard; Annaïg De Walsche, Institut Pasteur; Institut Pasteur
  • Epi-Mutations: The Underrepresented Paradigm in Genetics7 talks ▸
    Symposium08:15–09:45Room 710A/Level 7Intermediate
    1. 08:15Introduction
      Michael Zimmermann; Christopher Pin, Medical College of Wisconsin; University of Western Ontario
    2. 08:20Beyond the base pairs: Scoring protein-encoding genomic variants in epigenomic regulation at an atomic resolution level
      Raul Urrutia, Mayo Clinic Arizona (current address, Medical College of Wisconsin)
    3. 08:35New advances in epigenomic analysis for precision medicine
      Sanaa Choufani, The Hospital for Sick Children-SickKids, Senior Research Associate
    4. 08:50Leveraging DNA methylation signatures in developmental and epileptic encephalopathies: From precision diagnostics to biological insights
      Christy LaFlamme, University of Washington, Division of Medical Genetics
    5. 09:05Epi-mutations as drivers of cellular architecture: Organelle convergence in chromatinopathies
      Francesc Palau, Sant Joan de Déu Children's Hospital & SJD Research Institute, and CIBERER, M.D., Ph.D.
    6. 09:20Panel discussion and Q&A
    7. 09:40Closing remarks
      Michael Zimmermann; Christopher Pin, Medical College of Wisconsin; University of Western Ontario
  • Host-Pathogen Coevolution: Shaping Genetic Diversity and Disease Resistance7 talks ▸
    Symposium08:15–09:45Room 710B/Level 7Intermediate
    1. 08:15Introduction
      Giorgio Sirugo, University of Pennsylvania School of Medicine, Dr.
    2. 08:20Two species, one disease: Host-pathogen coevolution in infectious diseases
      Scott M. Williams, Case Western Reserve University
    3. 08:35Pathogen-driven evolution of human immunity across time and function
      Lluis Quintana-Murci, Institut Pasteur and College de France, Professor
    4. 08:50The genomic architecture of immune variation across populations
      Luis Barreiro, University of Chicago
    5. 09:05A longstanding co-evolutionary interaction between sickle haemoglobin and the Plasmodium falciparum genome
      Gavin Band, University of Oxford
    6. 09:20Panel discussion
    7. 09:40Closing remarks
      Lentlamatse Mantshonyane, Case Western Reserve University
  • Pharmacogenomics: Moving Beyond Gene-Drug Pairs6 talks ▸
    Symposium08:15–09:45Room 520/Level 5Genomic and Precision MedicineBasic
    1. 08:15Introduction
      Minoli Perera, Northwestern University, Associate Professor
    2. 08:20Multiomic analysis of hepatocyte models – discovery of pharmacogenomics insights in African Americans
      Carolina Clark, TBD
    3. 08:35Massively parallel functional investigation of the impact of regulatory variants on glucocorticoid response
      Brett Brown, St. Jude Children’s Research Hospital, PhD Candidate
    4. 08:50The use of the All Of Us to identify genetic drivers of platelet factor 4/heparin antibody production in diverse populations
      Andrew Klein, University of Arizona
    5. 09:05Clinical applications of social determinants of health in pharmacogenomics research
      Shana Littleton, Henry Ford Heath Center
    6. 09:20Panel discussion
  • Recent Advances and Opportunities Across the African Disease Genomics Landscape7 talks ▸
    Symposium08:15–09:45Room 510/Level 5Intermediate
    1. 08:15Introduction
      Neil Hanchard; Michèle Ramsay, National Human Genome Research Institute, National Institutes of Health; University of the Witwatersrand, Johannesburg, Professor of Human Genetics and Director SBIMB
    2. 08:20Characterizing the impact of APOL1-mediated kidney disease in Africa
      Adebowale Adeyemo, National Institutes of Health
    3. 08:35Blood regulatory variation in South Africans enables GWAS interpretation: Applications to HIV susceptibility and quantitative traits
      Jonathan Evans, Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand
    4. 08:50Bridging the genomic divide: Rare developmental disorder discovery in an African healthcare setting
      Nadja Louw, Genomics Platform South African Medical Research Council / Division of Human Genetics, Wits Health Consortium
    5. 09:05A blueprint for expanding rare disease genetics in Africa: The African Rare Disease Initiative
      Aime Lumaka, University of Kinshasa, Reference Centre for Rare and Undiagnosed Diseases
    6. 09:20Panel discussion and Q&A
    7. 09:40Closing remarks
      Neil Hanchard; Michèle Ramsay, National Human Genome Research Institute, National Institutes of Health; University of the Witwatersrand, Johannesburg, Professor of Human Genetics and Director SBIMB
  • The IGVF Consortium: Deciphering the Impact of Genomic Variation on Genome Function6 talks ▸
    Symposium08:15–09:45Room 517BC/Level 5Basic
    1. 08:15Introduction
      Karen Mohlke; Harinder Singh, University of North Carolina; University of Pittsburgh
    2. 08:20Coding variants: Experimental and predictive evidence to re-classify variants of unknown significance
      Lea Starita, University of Washington, Associate Professor
    3. 08:35Noncoding variants: Deciphering variant function using gene regulatory maps from CRISPR perturbations and predictive modeling
      Andreas Gschwind, Stanford University, Research Scientist
    4. 08:50Molecular networks: A shared CRISPRi resource for mapping transcription factor function across human cell lineages
      Gary Hon, University of Texas Southwestern Medical Center
    5. 09:05Complex disease: Integrating maps of genome function with genetic risk scores to improve cardiovascular disease prevention
      Rajat Gupta, Harvard University
    6. 09:20Panel discussion
  • Translational Models for Substance Use Disorders7 talks ▸
    Symposium08:15–09:45Room 516BC/Level 5Intermediate
    1. 08:15Introduction
      Robert Anholt, Clemson University - Institute for Human Genetics, Provost's Distinguished Professor
    2. 08:20Using large-scale genetics in C. elegans to decipher opioid regulatory networks
      Brock Grill, Seattle Childrens Research Institute - University of Washington, Professor
    3. 08:35The hybrid rat diversity panel as a valuable strategy to model stages of opioid use disorder
      Eamonn Duffy, Northeastern University
    4. 08:50Genetics of cocaine consumption and preference in the drosophila genetic reference panel
      Trudy Mackay, Clemson University - Institute for Human Genetics, Director, Clemson Institute for Human Genetics; Professor, Department of Genetics and Biochemistry, Clemson University
    5. 09:05Genetic studies of substance use disorders reveal convergent gene regulatory mechanisms in mice and humans
      Elissa Chesler, The Jackson Laboratory
    6. 09:20Panel discussion
    7. 09:40Closing remarks
      Montana Lara, University of California San Diego
09:45–11:00
Coffee break
2 Industry3 Social
  • Exhibit Hall Activities: Coffee Break, Concessions, Scavenger Hunt, Bark Park, Poster Viewing
    Social09:45–10:45Exhibit & Poster Hall
  • Advocates in Action: ACGT Presentations and Networking Event
    Social09:45–10:45Room 524AB/Level 5
  • Shared Interest Group Meetup: Emerging Omics and Clinical Translational Research
    Social09:45–10:45Room 518/Level 5
  • Challenge Accepted: Precision genomics for the genome’s toughest regions a CoLab Session Presented by SOPHiA GENETICS
    Industry10:15–10:45CoLab Theater 2, Exhibit & Poster Hall
  • Complex testing, consolidated with PacBio PureTarget and SPRQ-Nx on Vega a CoLab Session Presented by PacBio
    Industry10:15–10:45CoLab Theater 1, Exhibit & Poster Hall
11:00–12:00
Platform sessions
8 Platform
510
New Tricks for Tackling Unsolved Neurodevelopmental and Neuromuscular Disorders
511
Genetics of Cardiometabolic Traits
516BC
Single-Cell, Multi-Omics, and Liquid Biopsy Approaches to Decode Lung Disease Genetics and Biomarkers
517A
Resolving Rare Disease: Transcriptional, Functional, and Population-Scale Approaches
517BC
What's Next in Genetics and Genomics: Late Breaking Science
520
RNA Unbound: New Regulatory Layers from Modifications to Circular RNA in Disease
710A
Splicing in Disease Etiology
710B
New Methods for Detecting Clonal Hematopoiesis and Somatic Variation Across Scales
11:00
Brain imaging endophenotypes unlock novel gene discovery in isolated dystoniaAloysius Domingo

Massachusetts General Hospital

Session: New Tricks for Tackling Unsolved Neurodevelopmental and Neuromuscular Disorders

Placental expression quantitative trait loci (eQTLs) shed light on the biology of the prenatal origins of anthropometric measurements and cardiometabolic complex traitsAriadna Cilleros Portet

Icahn School of Medicine at Mount Sinai

Session: Genetics of Cardiometabolic Traits

Elucidation of novel and cell-type specific eQTL in single-nuclear sequencing of lung tissueSamantha Graham

Brigham and Women's Hospital, Postdoctoral Research Fellow

Session: Single-Cell, Multi-Omics, and Liquid Biopsy Approaches to Decode Lung Disease Genetics and Biomarkers

Comprehensive characterisation of non-coding and coding effects of de novo variants in a large-scale rare disease case-control cohortKartik Chundru

University of Exeter, Postdoc

Session: Resolving Rare Disease: Transcriptional, Functional, and Population-Scale Approaches

Semantic fragment representations for coordinate-free analysis of genomics dataJing Zhao

McGill University, PhD Student

Session: What's Next in Genetics and Genomics: Late Breaking Science

Genetic effects of common variants on RNA modifications in induced pluripotent stem cellsLogan Mulroney

National Cancer Institute

Session: RNA Unbound: New Regulatory Layers from Modifications to Circular RNA in Disease

LARIAT (long-read amplicon RNA-based identification of aberrant transcripts): A clinically validated laboratory developed test for splicing VUS resolution in rare diseaseSneha Mokashi

Greenwood Genetic Center, Staff scientist

Session: Splicing in Disease Etiology

mCA Explorer: An interactive catalog of mosaic chromosomal alterations detected in large population-based genomic investigationsMitchell Machiela

National Cancer Institute

Session: New Methods for Detecting Clonal Hematopoiesis and Somatic Variation Across Scales

11:15
Loss of function of ATAD2B disturbs brain development in mouse and humanOzge Aksel Kilicarslan

Department of Cellular and Molecular Medicine, University of Ottawa and Children’s Hospital of Eastern Ontario Research Institute

Session: New Tricks for Tackling Unsolved Neurodevelopmental and Neuromuscular Disorders

From phenome-wide genetic clustering to shared cardiometabolic gene architecture in UK BiobankMichael Preuss

The Feinstein Institutes for Medical Research / Northwell Health

Session: Genetics of Cardiometabolic Traits

Cross-disease single-cell mapping of 2 million lung cells reveals macrophage-centered fibrotic signaling networksYong-Zheng Zhang

Tongji University

Session: Single-Cell, Multi-Omics, and Liquid Biopsy Approaches to Decode Lung Disease Genetics and Biomarkers

Standardized transcriptome analysis improves rare disease diagnosis in large rare disease consortiaVicente Yépez

Technical University of Munich, Scientific Researcher

Session: Resolving Rare Disease: Transcriptional, Functional, and Population-Scale Approaches

Genome-wide association study of dreams and nightmares identifies over twenty lociDavid Camacho

Massachusetts General Hospital / Broad Institute of MIT and Harvard

Session: What's Next in Genetics and Genomics: Late Breaking Science

Multi-omic time-lapse dissection of acute miRNA biogenesis disruption reveals temporal and cellular identity signaturesGabriela Flores-Vargas

Centre de Recherche de l'Hôpital Maisonneuve-Rosemont

Session: RNA Unbound: New Regulatory Layers from Modifications to Circular RNA in Disease

Integrating long-read RNA sequencing with genomics and phenomics in a birth defects cohort to discover disease-relevant splice-altering variantsDavid Wu

University of Pennslyvania, MD-PhD Candidate

Session: Splicing in Disease Etiology

Somatic chromatin epimutations cap genetic determinism in the human diploid chromatin epigenomeElliott Swanson

University of Washington

Session: New Methods for Detecting Clonal Hematopoiesis and Somatic Variation Across Scales

11:30
De novo TUBA1B variants cause a syndromic neurodevelopmental disorder associated with brain, intestinal, renal, and immunological defectsAndrea Accogli

McGill University

Session: New Tricks for Tackling Unsolved Neurodevelopmental and Neuromuscular Disorders

Large-scale multi-omics analyses of cardiometabolic traits in the Middle EastTamara Said El Artah

College of Health and Life Sciences, Hamad Bin Khalifa University

Session: Genetics of Cardiometabolic Traits

Proteome-wide linear and non-linear association study of systemic inflammation indices and Mendelian randomization identifies causal proteins for idiopathic pulmonary fibrosisTaehyun Lee

Chungbuk National University

Session: Single-Cell, Multi-Omics, and Liquid Biopsy Approaches to Decode Lung Disease Genetics and Biomarkers

Homozygosing gnomAD: Maximizing the clinical value of gnomAD through the power of autozygosityAli Balubaid

Lifera Omics, Bioinformatician

Session: Resolving Rare Disease: Transcriptional, Functional, and Population-Scale Approaches

Genetic dissection of human islet ER stress responses uncovers context-specific T2D variant effects and mechanismsKevin Liu

University of Connecticut School of Medicine, MD-PhD candidate

Session: What's Next in Genetics and Genomics: Late Breaking Science

Multi-omic profiling identifies MALAT1-driven splicing and circular RNA dysregulation in CD8+ T cells from multiple sclerosis patientsGiulia Solda

Humanitas University

Session: RNA Unbound: New Regulatory Layers from Modifications to Circular RNA in Disease

Characterization of novel isoforms from long-read trio RNA sequencing of whole blood in rare diseaseVijay Ganesh

Mass General Brigham

Session: Splicing in Disease Etiology

Single-cell multi-omic dissection of ASXL1-mutant clonal hematopoiesis: Integrating genotype, transcriptome, and protein in myeloid disease progressionTerra Lasho

Mayo Clinic

Session: New Methods for Detecting Clonal Hematopoiesis and Somatic Variation Across Scales

11:45
Genome-wide tandem repeat expansions in regulatory regions contribute to epilepsy riskJimmy Nguyen

The Hospital for Sick Children

Session: New Tricks for Tackling Unsolved Neurodevelopmental and Neuromuscular Disorders

Lipoprotein(a): Monogenic or polygenic?Po-Ru Loh

Brigham and Women's Hospital

Session: Genetics of Cardiometabolic Traits

Beneath the variants: Fragmentomics unmasks epigenomic signal from existing mutation profiling of cfDNA for lung cancer classification and prognosisJonathan Shepherd

GeneCentric Therapeutics

Session: Single-Cell, Multi-Omics, and Liquid Biopsy Approaches to Decode Lung Disease Genetics and Biomarkers

A tiered functional evidence framework for rare disease diagnosis in the NIH Undiagnosed Diseases ProgramMay Christine Mallicdan

NIH Undiagnosed Diseases Program

Session: Resolving Rare Disease: Transcriptional, Functional, and Population-Scale Approaches

Differentiate molecular hallmarks in prostate tumours linking ancestry and geographyJue Jiang

The University of Sydney, PhD Student

Session: What's Next in Genetics and Genomics: Late Breaking Science

MicroRNA-mediated regulatory flux at the thermal stress–immunity nexusKathryn Shows

Virginia State University, Assistant Professor

Session: RNA Unbound: New Regulatory Layers from Modifications to Circular RNA in Disease

Integration of dilated cardiomyopathy genomics with transcriptomics from the human heart implicates regulatory molecular mechanismsAni Manichaikul

University of Virginia

Session: Splicing in Disease Etiology

Ultra-sensitive profiling of clonal haematopoiesis in an apparently healthy West African cohort reveals dominance of DNMT3A and TET2 mutationsKolapo Oyebola

Centre for Genomic Research in Biomedicine, Mountain Top University

Session: New Methods for Detecting Clonal Hematopoiesis and Somatic Variation Across Scales

12:00–13:30
Lunch
Prof. Ed.5 IndustrySocial
  • Exhibit Hall Activities: Concessions, Scavenger Hunt, Bark Park, Poster Viewing
    Social12:00–13:30Exhibit & Poster Hall
  • Behind the Scenes: ASHG Publications Workshop
    Prof. Ed.12:00–13:30Room 524AB/Level 5Career DevelopmentBasicTicketed Event
  • Human Genetics in the Age of AI: In conversation with Aravinda Chakravarti and Peter Donnelly - a CoLab Session Presented by Genomics Ltd.
    Industry12:15–12:45CoLab Theater 2, Exhibit & Poster Hall
  • AlphaGenome Atlas: A predictive map of every possible DNA letter change in the human genome an Industry Education Session Presented by Google DeepMind
    Industry12:15–13:15Room 512ABCEFG/Level 5
  • Biological Discovery at Scale: Building Learning Systems Across Population and Institutional Research Programs an Industry Education Session Presented by Illumina
    Industry12:15–13:15Room 513ABC/Level 5
  • Codon One - Arun for Whole-Genome (Re)analyses: From Concept to Diagnoses - an Industry Education Session Presented by Codon One BV
    Industry12:15–13:15Room 514BC/Level 5
  • The Future is Whole (genome): The next era of sequencing with the UG200 an Industry Education Session Presented by Ultima Genomics
    Industry12:15–13:15Room 519A/Level 5
13:30–14:30
Platform sessions
8 PlatformProf. Ed.
510
Returning ‘Omics Results to Patients to Improve Health
511
New Insights into the Genetic Basis of Neurodegenerative Conditions
516BC
Operationalizing Precision: Frameworks, Platforms, and Target Discovery for Individualized Genomic Therapies
517A
New Machine Learning Approaches in Genetics and Genomics
517BC
MAMO: Multi-Ancestry-Aware Multi-Omics Analysis for Complex Diseases
520
Decoding Malformation Syndromes: New Disease Genes Across Organ Systems
710A
Multi-Omics Perspectives on Immune Regulation, Adaptation, and Inflammatory Disease
710B
Modeling Genetic Disorders with Organoids
13:30
A longitudinal review of the outcomes of genetic testing in a multi-disciplinary prostate cancer genetics clinicAustin Bland

Fred Hutchinson Cancer Center

Session: Returning ‘Omics Results to Patients to Improve Health

Powerful SNP and STR association study of young-onset Alzheimer’s disease identifies new genes and infers novel disease biologyRebecca Mahoney

UK Dementia Research Institute, Cardiff University

Session: New Insights into the Genetic Basis of Neurodegenerative Conditions

Providing ethical guidance for the development of individualized genomic medicine as rare as n-of-1: Results from the GENIE studyLynn Bush

Boston Children's Hospital

Session: Operationalizing Precision: Frameworks, Platforms, and Target Discovery for Individualized Genomic Therapies

Transformer-based modeling of longitudinal health records uncovers genetically distinct trajectories of major depressive disorderYi-Syuan Ke

National Taiwan University

Session: New Machine Learning Approaches in Genetics and Genomics

Multi-ancestry genome-wide association and multi-omics analyses elucidate spatio-cellular features of multiple sclerosis geneticsRintaro Fujimoto

The University of Tokyo

Session: MAMO: Multi-Ancestry-Aware Multi-Omics Analysis for Complex Diseases

Novel human variants and zebrafish models confirm the critical role of Zinc Finger Homeobox 4 (ZFHX4) in structural eye disordersRichard Holt

Oxford Brookes University

Session: Decoding Malformation Syndromes: New Disease Genes Across Organ Systems

Genetic architecture and evolutionary origins of immune trait variation in EuropeansCian Reid

Institut Pasteur

Session: Multi-Omics Perspectives on Immune Regulation, Adaptation, and Inflammatory Disease

Rapid individualized drug repurposing for the treatment of rare genetic diseases using patient-derived organoidsScott Younger

Children's Mercy Hospital

Session: Modeling Genetic Disorders with Organoids

13:45
One in ten individuals receives a medically actionable result through direct-to-consumer genetic testing: Insights from 6 million research participantsNoura Abul-Husn

23andMe Research Institute, Chief Medical Officer

Session: Returning ‘Omics Results to Patients to Improve Health

Population-scale whole-genome burden analysis identifies rare coding risk genes for Alzheimer's disease and Parkinson's diseaseYann Le Guen

Stanford University, Assistant Director of Computational Biology

Session: New Insights into the Genetic Basis of Neurodegenerative Conditions

Building the N=1 Collaborative Gene Registry to advance discovery, assessment, and collaboration for bespoke genomic therapiesAndy Drackley

Ann & Robert H. Lurie Children's Hospital of Chicago

Session: Operationalizing Precision: Frameworks, Platforms, and Target Discovery for Individualized Genomic Therapies

Accurate genomic prediction in ultra-small patient cohortsSiddhant Sanghi

UC Davis

Session: New Machine Learning Approaches in Genetics and Genomics

Multi-omics quality control in the Trans-Omics for Precision Medicine (TOPMed) Program using scalable genetically-anchored strategiesJacob Blamer

University of Michigan, Senior Computational Biologist

Session: MAMO: Multi-Ancestry-Aware Multi-Omics Analysis for Complex Diseases

Rare variants in DSTYK contribute to vertebral malformations and idiopathic scoliosisPhilip Giampietro

University of Illinois -Chicago

Session: Decoding Malformation Syndromes: New Disease Genes Across Organ Systems

Atlas-level multi-omics data reveals the genetic impact of cell type-specific gene regulatory cascade in human immune diseasesLei Li

Shenzhen Bay Laboratory

Session: Multi-Omics Perspectives on Immune Regulation, Adaptation, and Inflammatory Disease

Modeling CHARGE syndrome uncovers disrupted cranial neural crest migration and fate specificationDonna Martin

University of Michigan

Session: Modeling Genetic Disorders with Organoids

14:00
Behavioral impacts of genome-informed risk assessment (GIRA) on participants in the eMERGE-IV networkMinerva Nong

Columbia University Irving Medical Center, Medical Student

Session: Returning ‘Omics Results to Patients to Improve Health

Somatic deletions in the brain preserve the reading frame of APOE in Alzheimer’s diseasePaul Valdmanis

University of Washington

Session: New Insights into the Genetic Basis of Neurodegenerative Conditions

An atlas of human pathogenic variants for splice-switching oligonucleotide therapyMinsung Park

Korea Advanced Institute of Science and Technology

Session: Operationalizing Precision: Frameworks, Platforms, and Target Discovery for Individualized Genomic Therapies

Integrating 730,947 exomes with agentic clinical literature curation improves gene discoveryJeremy Guez

Broad Institute of MIT and Harvard, MGH, HMS

Session: New Machine Learning Approaches in Genetics and Genomics

Genome-wide and multi-omic analyses of irritable bowel syndrome across 25 cohorts implicate immune, circadian, and gut-brain signaling pathwaysChachrit Khunsriraksakul

Johns Hopkins University School of Medicine, Resident Physician

Session: MAMO: Multi-Ancestry-Aware Multi-Omics Analysis for Complex Diseases

Haploinsufficiency of RNPS1, a component of the exon junction complex, causes a syndromic neurodevelopmental disorder with skeletal anomaliesDaniel Calame

Baylor College of Medicine

Session: Decoding Malformation Syndromes: New Disease Genes Across Organ Systems

Mission aware multi omics profiling of early human adaptation to spaceflightHarsha Doddapaneni

Baylor College of Medicine, Associate Professor

Session: Multi-Omics Perspectives on Immune Regulation, Adaptation, and Inflammatory Disease

DNA methylation signatures distinguish pancreatic ductal adenocarcinoma prognostic subtypes of patient-derived organoidsJoana Ribeiro Pinto

Western University

Session: Modeling Genetic Disorders with Organoids

14:15
Nationwide clinical implementation of metabolomic risk scores: Evidence from Finnish occupational healthcareLuke Jostins-Dean

Nightingale Health

Session: Returning ‘Omics Results to Patients to Improve Health

Large scale analysis of transposable element insertions in Alzheimer's disease across different ancestriesFrancis Grenn

Boston University

Session: New Insights into the Genetic Basis of Neurodegenerative Conditions

A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseasesLogan Newton

The Hospital for Sick Children

Session: Operationalizing Precision: Frameworks, Platforms, and Target Discovery for Individualized Genomic Therapies

A spatially resolved genomic–molecular atlas of human white‑matter microstructureAlec Reinhardt

University of North Carolina - Chapel Hill

Session: New Machine Learning Approaches in Genetics and Genomics

The largest multi-ancestry fine-mapping in over 2 million participants improves credible set resolution and enrichment in breast regulatory elementsPeter Kraft

National Cancer Institute

Session: MAMO: Multi-Ancestry-Aware Multi-Omics Analysis for Complex Diseases

Identification of somatic mutations in surgically resected tissues from individuals with craniofacial microsomia (CFM)James Bennett

Seattle Children's Research Institute/University of Washington

Session: Decoding Malformation Syndromes: New Disease Genes Across Organ Systems

Integrating computational genetics and functional genomics reveals palmitoylation as a therapeutically targetable pathway in asthmaIsabella Salamone

University of Chicago

Session: Multi-Omics Perspectives on Immune Regulation, Adaptation, and Inflammatory Disease

High-throughput in vitro and in vivo AAV screen uncovers short, strong, and tissue-specific regulatory elements for gene therapyEnrico Mossotto

MeiraGTx

Session: Modeling Genetic Disorders with Organoids

  • Prof. Ed.The Future of Gene Therapy: Policy Pathways for Safe, Scalable Innovation13:30–14:30Room 518/Level 5
14:30–16:30
Posters & coffee
17 PostersProf. Ed.Industry2 Social
  • Exhibit Hall Activities: Coffee Break, Concessions, Scavenger Hunt, Bark Park, Headshot Lounge, Photo Booth at ASHG Central
    Social14:30–16:30Exhibit & Poster Hall
  • When exposure leaves a mark: Mapping epigenetic memory with DNA methylation arrays a CoLab Session Presented by Illumina
    Industry14:30–15:00CoLab Theater 1, Exhibit & Poster Hall
  • Artificial Intelligence and Machine Learning Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Cancer Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Complex Traits and Polygenic Disorders Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Epigenomics Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Evolutionary and Population Genetics Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Genetic Counseling, ELSI, and Education Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Genetic Therapies and Precision Medicine Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Genetic, Genomic, and Epigenomic Resources and Databases Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Health Services Research and Implementation Science Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Laboratory Genetics and Genomics Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Late-Breaking Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Mendelian Phenotypes Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Molecular Effects of Genetic Variation Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Omics Technologies Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Pharmacogenomics Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Prenatal, Perinatal, Reproductive, and Developmental Genetics Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Statistical Genetics and Genetic Epidemiology Poster Friday Session
    Posters14:30–16:30Exhibit & Poster Hall
  • Speed Mentoring
    Prof. Ed.14:45–16:15Gene-ius Lounge, Exhibit & Poster HallCareer DevelopmentPre-Registration Required
  • Meet the ASHG Editors
    Social15:00–16:00ASHG Central, Exhibit & Poster Hall
16:30–18:15
Plenary abstracts III & awards
Plenary

Awards Recognition & Plenary Abstract Session III

  • Awards Recognition & Plenary Abstract Session III8 talks ▸
    Plenary16:30–18:15Room 517/Level 5Intermediate
    1. 16:30Transcriptomics profiling identifies signatures associated with progression of precancerous gastric lesions
      Guangfu Jin, Nanjing Medical University, Professor
    2. 16:49CRISPR-Cas9 screening reveals ATAD5 as a tissue-specific modifier of CAG instability in Huntington’s disease mice
      Mathilde Louçã, Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Postdoctoral Fellow
    3. 17:08Heritability of germline mutagenesis in 40 large three- and four-generation pedigrees
      Michael Goldberg, Department of Human Genetics, University of Utah
    4. 17:27Fine-mapping gene-gene and gene-environment interactions at phenotype-associated loci
      Yihe Yang, Case Western Reserve University School of Medicine, Research Associate
    5. Roxanne Khamsi, Advocacy Award recipient (Award recognition)
    6. Robbee Wedow, PhD, Education Award recipient (Award recognition)
    7. Wendy Chung, MD, PhD, Scientific Achievement Award recipient (Award recognition)
    8. Winners of the ASHG Trainee Research Excellence Awards are also announced

Sat 24 Oct

08:15–09:15
Platform sessions
5 Platform3 Workshop
510
Translational and Technological Advances in Genetic Therapies
511
Decomposing Diabetes: Approaches for Understanding Diabetes Heterogeneity
516BC
From Autoimmune Risk Variants to Cell States and Target Genes: Integrative Genetic Dissection of Immune-Mediated Disease
520
Rethinking Genomic Discovery: New Methods for a Complex Genetic Landscape
710B
The Selection Paradox: Why Disease Variants Persist
08:15
Genetic and therapeutic characterization of FIG4- linked neurodegenerationSydney Peterson

University of Utah

Session: Translational and Technological Advances in Genetic Therapies

Dissecting the genetic architecture of diabetes subgroups in mexican individualsJuan Pablo Díaz-Sánchez

Instituto Nacional de Geriatría

Session: Decomposing Diabetes: Approaches for Understanding Diabetes Heterogeneity

A distinct subset of autoimmune diseases defined by profound co-prevalence and genetic risk association with the IL12 pathwayPriyanka Nakka

Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc.

Session: From Autoimmune Risk Variants to Cell States and Target Genes: Integrative Genetic Dissection of Immune-Mediated Disease

OPERA: A scalable framework for identifying disease-mediating gene programs from perturb-seq dataJiaming Liu

The University of Chicago

Session: Rethinking Genomic Discovery: New Methods for a Complex Genetic Landscape

Why do high-effect common variants persist in human populations?Dhrithi Deshpande

University of Southern California

Session: The Selection Paradox: Why Disease Variants Persist

08:30
Characterization and targeting of intronic splicing variants in neurological disease with an AI-informed prime-editing frameworkPaolo Pigini

MGH-Harvard

Session: Translational and Technological Advances in Genetic Therapies

Disentangling adiposity-related and non-adiposity-related genetic pathways for type 2 diabetesChen-Yang Su

University of Wisconsin-Madison

Session: Decomposing Diabetes: Approaches for Understanding Diabetes Heterogeneity

Direct functional characterization of autoimmune risk variants reveals cell state-specific allelic effects in human CD4+ T cellsTakeshi Iwasaki

The Jackson Laboratory

Session: From Autoimmune Risk Variants to Cell States and Target Genes: Integrative Genetic Dissection of Immune-Mediated Disease

Genomic foundation models do not yet boost common variant discoveryAndrew Bass

University of Cambridge

Session: Rethinking Genomic Discovery: New Methods for a Complex Genetic Landscape

Transcriptome-wide Mendelian randomization reveals widespread antagonistic pleiotropy between reproductive fitness and complex diseasesBowei Kang

the University of Chicago

Session: The Selection Paradox: Why Disease Variants Persist

08:45
Development of a compact bidirectional promoter for coordinated multi-gene expressionMorgan Dwyer

VectorBuilder Inc

Session: Translational and Technological Advances in Genetic Therapies

Genome-wide polygenic mapping of latent mechanisms underlying type 2 diabetes integrated with CRISPR high-content imagingSatoshi Yoshiji

McGill University / Broad Institute

Session: Decomposing Diabetes: Approaches for Understanding Diabetes Heterogeneity

Long-read sequencing and site-directed mutagenesis show the validity and non-redundancy of allele-specific CpG methylation for post-GWAS mapping in autoimmune inflammatory diseasesCarolina Alberca-Doto

Hackensack Meridian Health Center for Discovery & Innovation (HMH-CDI)

Session: From Autoimmune Risk Variants to Cell States and Target Genes: Integrative Genetic Dissection of Immune-Mediated Disease

Genome haplotype orchestration via synthetic trajectory (GHOST): Reconstructing population-specific linkage disequilibrium for unrepresented ancestries using only summary statisticsJonghyun Kim

Department of Biological Sciences, Graduate School of Science, The University of Tokyo

Session: Rethinking Genomic Discovery: New Methods for a Complex Genetic Landscape

Integrative analysis of variant effects on gene dosage, complex traits, and fitnessTami Gjorgjieva

Stanford University

Session: The Selection Paradox: Why Disease Variants Persist

09:00
AAV gene addition therapy for MMACHC-related combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC)Jennifer Sloan

NHGRI

Session: Translational and Technological Advances in Genetic Therapies

Functional dissection of regulatory variants in type 2 diabetes using massively parallel reporter assays in two cell typesMilena Deal

University of North Carolina at Chapel Hill

Session: Decomposing Diabetes: Approaches for Understanding Diabetes Heterogeneity

Deciphering the genetic causes of autoimmunity: From non-coding GWAS variants to target genesViacheslav Kriachkov

Walter and Eliza Hall Institute of Medical Research

Session: From Autoimmune Risk Variants to Cell States and Target Genes: Integrative Genetic Dissection of Immune-Mediated Disease

A heritability-optimized method for functional prioritization of rare coding variants in complex traitsKeona Pang

Population Health Research Institute

Session: Rethinking Genomic Discovery: New Methods for a Complex Genetic Landscape

An end-to-end differentiable, inferential model of stabilizing selection for molecular quantitative traitsMatthew Carr

University of Southern California

Session: The Selection Paradox: Why Disease Variants Persist

  • WorkshopBeyond the Blueprint: GENE-ius Interactive Strategies for Engagement08:15–10:15Room 523/Level 5
  • WorkshopThe Human Pangenome Release 3: Data, Tools, Applications, and Ethics08:15–10:15Room 524AB/Level 5
  • WorkshopAssessing Genetic Variants for RNA and Gene Editing Therapeutic Approaches08:15–11:15Room 518/Level 5
09:15–09:45Short break
09:45–10:45
Platform sessions
5 Platform
510
X, Y and Why? - Mechanism of Sex Bias in Neuronal Disorders
511
Move Over SNPs: Structural Variants, Repeat Expansions, and More
516BC
Decoding Sensory Diseases: Germline, Somatic, and Regulatory Mechanisms
520
Genomic Medicine in Underrepresented and Diverse Populations
710B
Cancer Under Pressure: Genomics of Therapy Response and Resistance
09:45
An APOE*4-informed genomic atlas of the X chromosome in Alzheimer’s diseaseNoah Cook

Washington University in St. Louis, Data Analyst / Bioinformaticist

Session: X, Y and Why? - Mechanism of Sex Bias in Neuronal Disorders

Federated analyses yield almost 2 million structural variants from 147,994 genomes from the Genome Aggregation Database and the All of Us Research ProgramEmma Pierce-Hoffman

Broad Institute of MIT and Harvard

Session: Move Over SNPs: Structural Variants, Repeat Expansions, and More

Novel role of DDX41, a cancer-associated RNA helicase, in inherited retinal dystrophiesZoéline Mars

Institut Imagine, PhD Student

Session: Decoding Sensory Diseases: Germline, Somatic, and Regulatory Mechanisms

Genomics for KIDS in ASEAN: Improving access to genomic testing through regional collaborations in Southeast AsiaSock Hoai Chan

KK Women's and Children's Hospital

Session: Genomic Medicine in Underrepresented and Diverse Populations

Circulating proteomic signatures predict immune checkpoint blockade resistance and immune-related toxicity across cancersSamantha Stone

Huntsman Cancer Institute, University of Utah

Session: Cancer Under Pressure: Genomics of Therapy Response and Resistance

10:00
Sex-biased transcriptional programs in the fetal enteric nervous system and Hirschsprung disease susceptibilityHanna Berk-Rauch

NYU School of Medicine

Session: X, Y and Why? - Mechanism of Sex Bias in Neuronal Disorders

Genotype imputation and functional characterization of centromeric structural variants using long-read assembliesYikai Dong

Emory University

Session: Move Over SNPs: Structural Variants, Repeat Expansions, and More

High-throughput splicing assay to functionally characterize genetic variants with splicing effectFang-Shiuan Leung

UC Irvine

Session: Decoding Sensory Diseases: Germline, Somatic, and Regulatory Mechanisms

Genomic and environmental factors related to neurodevelopmental disorders in RwandaAnnette Uwineza

University of Rwanda / College of Medicine and Health Sciences

Session: Genomic Medicine in Underrepresented and Diverse Populations

Dissecting evolutionary and drug response dynamics in metastatic breast cancer via long-read single-cell transcript isoform, fusion, and mutation analysisGhamdan Al-Eryani

Broad Institute of MIT and Harvard

Session: Cancer Under Pressure: Genomics of Therapy Response and Resistance

10:15
Cell-state–resolved sex differences and APOE genotype interactions in dementia and ADRD: A systematic review of single-cell studies and the structural evidence gapPei-Ying Chuang

University of Maryland, Baltimore

Session: X, Y and Why? - Mechanism of Sex Bias in Neuronal Disorders

PAV 3: Comprehensive variant discovery across a range of variant types and sizesPeter Audano

The Jackson Laboratory

Session: Move Over SNPs: Structural Variants, Repeat Expansions, and More

Somatic second-hit detection in retinoblastoma by aqueous humor liquid biopsyNaz Güleray-Lafci

Department of Medical Genetics, Faculty of Medicine, Hacettepe University, Medical Geneticist

Session: Decoding Sensory Diseases: Germline, Somatic, and Regulatory Mechanisms

Beyond the primary indication: Incidental findings in apparently healthy individuals from a Jewish - Mexican cohortAdela Kanan Masri

ZUG

Session: Genomic Medicine in Underrepresented and Diverse Populations

Genome-scale screening identifies lncRNA vulnerabilities in triple-negative breast cancerNehad Alajez

Qatar Biomedical Research Institute, Principal Investigator

Session: Cancer Under Pressure: Genomics of Therapy Response and Resistance

10:30
Sex-specific genetic architecture and liability thresholds in amyotrophic lateral sclerosisMaurizio Grassano

NINDS, NIH

Session: X, Y and Why? - Mechanism of Sex Bias in Neuronal Disorders

Phenome-wide association studies of short tandem repeats in the UK Biobank identify novel pathogenic repeat expansions and common repeat polymorphisms underlying diverse human traitsAndrew Sharp

Icahn School of Medicine at Mount Sinai, Professor

Session: Move Over SNPs: Structural Variants, Repeat Expansions, and More

Large-scale integrative whole-genome analyses revealed a high prevalence of dominant MME variants and a rare NEFH promoter mutation in idiopathic peripheral neuropathyZefan Li

Washington University School of Medicine, Graduate student

Session: Decoding Sensory Diseases: Germline, Somatic, and Regulatory Mechanisms

Addressing Latin American underrepresentation in ClinVar through a quality-controlled variant governance and data-sharing framework from Brazilian clinical genomicsEduardo Da Cas

DASA

Session: Genomic Medicine in Underrepresented and Diverse Populations

Logic-gated CAR-T cells for the treatment of relapsed acute myeloid leukemia post-haploidentical bone marrow transplantNikita Marcou

Johns Hopkins University School of Medicine

Session: Cancer Under Pressure: Genomics of Therapy Response and Resistance

10:45–11:15Short break
11:15–12:45
Closing plenary
Plenary

Globalizing Human Genetics: From Discovery Through Implementation

  • Globalizing Human Genetics: From Discovery Through Implementation7 talks ▸
    Plenary11:15–12:45Room 517/Level 5Intermediate
    1. 11:50Genetics across communities advance heart attack prevention globally
    2. Eimear Kenny, Icahn School of Medicine at Mount Sinai, Director of the Institute for Genomic Health (Session speaker)
    3. Gonçalo Abecasis, RGC - Regeneron, VP RGC Chief Analytical Genomics & Data Sciences Officer (Session speaker)
    4. Pradeep Natarajan, Amgen, VP of Global Research, Head of Cardiometabolic Research, Head of Human Genetics (Session speaker)
    5. Genevieve L. Wojcik, Johns Hopkins Bloomberg School of Public Health (BSPH), Associate Professor of Epidemiology (Session speaker)
    6. Michèle Ramsay, University of the Witwatersrand, Johannesburg, Professor of Human Genetics and Director SBIMB (Moderator)
    7. Oyesola Ojewunmi, Queen Mary University of London/Medical Research Council & London School of Hygiene and Tropical Medicine, Lecturer & Assistant Professor (Moderator)