Save the date for ASHG's upcoming virtual symposium on multi-omics. More details to come.

December 2 and 3, 9:30 AM–3:00 PM ET. Attendees will be eligible to claim 6 CE. 

 
Pricing: $99 ASHG 2026 attendees (with coupon), $199 ASHG member, $299 nonmember.

Tuesday, October 20 

• Presidential Welcome and Address 
  • Finding Your Voice in Science: Reflections on Leadership and Resilience (Susan A. Slaugenhaupt, PhD)

• Plenary Abstract Session I

Wednesday, October 21 

• Featured Symposia
  • The All of Us Research Program at 10 years: 500,000+ Genomes Advancing Precision Medicine

• Platform Abstract Sessions
  • Promise and Peril of Sequence-to-Function Models for Variant Effect Predictions

• Lightning Talks
  • Advances in Population Genetics, Genetic Epidemiology, and Omics

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

Thursday, October 22

• Platform Abstract Sessions
  • The Long and Short of It: Long-Read Genomics from Biobanks to the Clinic

• Platform Abstract Sessions
  • Pivoting from Gene-Level Analyses to Isoform-Resolved Biology

• Awards Recognition and Plenary Abstract Session II

Friday, October 23 

• Featured Symposia
  • The IGVF Consortium: Deciphering the Impact of Genomic Variation on Genome Function

• Platform Abstract Sessions
  • What’s Next in Genetics and Genomics: Late Breaking Science

• Platform Abstract Sessions
  • MAMO: Multi-Ancestry-Aware Multi-Omics Analysis for Complex Diseases

• Awards Recognition and Plenary Abstract Session III

Saturday, October 24 

• Distinguished Speakers Symposium  
  • Globalizing Human Genetics: From Discovery Through Implementation

Hear from ASHG volunteers on how to navigate the Annual Meeting as a first-time attendee or trainee. We will cover a range of topics, from badge pick-up to networking opportunities and how to make the most of your experience. You will also have the opportunity to ask your questions during a Q&A period.

Overview of Webinar:

• Summarize helpful tips and tricks for ASHG Annual Meeting attendees, especially those who are first-time attendees. 
• Identify programming and networking opportunities for ASHG Annual Meeting attendees.

Join us virtually September 24–25 for The Intelligent Genome: Powered by AI, a two-day symposium exploring how artificial intelligence and machine learning are accelerating discovery for human genetics and genomics professionals worldwide. Connect with leading experts, explore real-world applications, and gain actionable insights through interactive discussions and expert-led presentations.

September 24 and 25, 9:30 AM–3:00 PM ET. Attendees will be eligible to claim 6 CE. 

Day One: September 24, 2026

9:30am – 10:00am    From Data to Insight: The Strategic Potential of AI in Human Genetics and Genomics (Ankit Malhotra, PhD, AWS Healthcare and Life Sciences)

10:00am – 10:30am    Evaluation of a novel AI agent for statistical genetics and target discovery (Vincent Plagnol, PhD, Genomics Ltd)

10:30am – 11:00am    Beyond Sequence-Based Models: Deep Hurdle Network Improves Gene Expression Prediction (Devashish Tripathi, BRIC-National Institute of Biomedical Genomics)

11:00am – 11:30am    Genetic discovery via AI-derived imaging phenotypes (Degui Zhi, PhD, Yale University)

11:30am – 12:00pm    Panel Discussion – (All Speakers) 

12:00pm – 1:00pm    Break

1:00pm – 1:30pm    Unsupervised Graph Learning on Large-Scale Pediatric EHR-Linked Biobank Identifies Clinically Actionable (Rasika Venkatesh, PhD, University of Pennsylvania)

1:30pm – 2:00pm    AI-Enabled DNAm Classification of Variants in Neurodevelopmental Disorders (Sanaa Choufani, PhD, The Hospital for Sick Children)

2:00pm – 2:30pm    From Hundreds of Outliers to One Diagnosis: Agentic AI for Scalable RNA-seq Triage in the NIH Undiagnosed (Shamika Ketkar, PhD, Baylor College of Medicine)

2:30pm – 3:00pm    Panel Discussion – (All Speakers) 

Day Two: September 25, 2026

9:30am – 10:00am    Application of AlphaGenome to rare non-coding variant discovery and interpretation (Gareth Hawkes, PhD, University of Exeter)

10:00am – 10:30am    VCEPilot: Agentic AI execution of ClinGen VCEP specifications achieves expert-aligned variant classification (Xun Song, New Jersey Institute of Technology)

10:30am – 11:00am    MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering (Hyun-Hwan Jeong, PhD, Baylor College of Medicine)

11:00am – 11:30am    Supervised generative AI for holistic germline variant summarization: turnaround time optimization, community contextualization and hallucination-free safeguard placement (Jose Reverol, Saphetor SA)

11:30am – 12:00pm    Panel Discussion – (All Speakers) 

12:00pm – 1:00pm    Break

1:00pm – 1:30pm    AI-Enhanced Quality Improvement to Optimize Germline Genetic Testing in Advanced Prostate Cancer: Harnessing User Customization of an EHR-embedded Clinical Data Intelligence Platform (Kenneth Nepple, MD, University of Iowa Health Care)

1:30pm – 2:00pm    A Generative Transformer Trained with Genetics for Forecasting an Individual's Risk Across Many Diseases (Bertram Koelsch, PhD, 23andMe Research Institute)

2:00pm – 2:30pm    Genelio: Talking to Your DNA Through Retrieval-Grounded, ACMG-Aware Plain-Language Interpretation (Preethi Balasundaram, PhD, BioAro Inc)

2:30pm – 3:00pm    Panel Discussion – (All Speakers) 

We will discuss benefits and emerging challenges in sharing biomedical research data. We will draw on experiences from the Electronic Medical Records and Genomics (eMERGE-IV) Network and consider the ethical, legal and social issues that arise. 

Overview of Presentation:

• Sharing of biomedical research data offers significant benefits for scientific discovery but must be balanced against potential harms. 

• The challenges may be pronounced in large consortiums, where there are different laws and regulations. We will draw on the experience of eEMRGE-IV Network, a US-based, multi-site consortium, to explore challenges that arise 

• We will consider the ethical, legal and social implications of sharing biomedical research data, including concerns about individual and group harms, and propose steps to reduce the risks. 

Adelaide Tovar, PhD, will present her HGG Advances paper on how massively parallel reporter assay (MPRA) design can alter enhancer activity across the same set of fragments. She and co-authors found that using a tissue-specific promoter in MPRAs instead of a generic housekeeping promoter can enhance detection of activity from tissue-specific regulatory elements.

Overview of Presentation:

• Our study examined MPRA design effects on activity of type 2 diabetes-associated regulatory elements.
• Fragments overlapping cell-specific TF motifs displayed higher activity with a tissue-specific promoter over a generic one.
• Deleting/mutating those same TF motifs disrupted tissue-specific promoter-biased regulatory activity in a diabetes-relevant cell type.

Hyun-Hwan Jeong, PhD, will present his AJHG paper on MARRVEL-MCP, an AI-powered computational tool that simplifies genetic variant interpretation using natural language queries. The platform integrates curated biomedical databases with large language models to accelerate rare disease diagnosis and improve accessibility for non-expert users.

Overview of Presentation:

• MARRVEL-MCP enables plain-language genetic variant interpretation using AI and biomedical databases.  
• Tool improves diagnostic accuracy and efficiency for rare disease research workflows.
• Smaller AI models achieved major performance gains using curated biological context.

Hector Rodrigo Mendez, MD, will present “RNUopathies: A New Frontier in Genetics,” offering a comprehensive overview of this emerging class of splicing disorders. Building on this foundation, he will discuss his recent findings on how bi-allelic RNU6ATAC variants drive transcriptome-wide minor intron retention and complex multisystem manifestations.

Jointly hosted by ASHG and ESHG, this 1-hour program provides an in depth look at how scientists build careers in the industry sector. Presenters will share how they apply their scientific background to the industry environment and offer advice to those considering this path. 

During this interactive panel discussion, speakers will explore: 

•     Pathways into the private sector 
•     The range of scientific roles in industry, including research, translational science, clinical development, and data science 
•     Skills, experiences, and competencies that are most useful in their role 
•     Advice for trainees and early‑career scientists preparing for industry careers 

Following the panel, attendees will have the opportunity to ask questions and gain candid insights directly from industry scientists. 

Dr. Sara Cromer and Dr. David Conti will review the commonly used population descriptors, polygenic scores, and social determinants of health measures, identifying the nuances in measurement and interpretation. They will then turn to analytic and ethical considerations for modeling polygenic risk and SDoH jointly across diverse populations.

Overview of Presentation:

• Define and explore the complexity of commonly used population descriptors, polygenic scores, and social determinants of health
• Identify important considerations and best practices in modeling polygenic risk and social determinants jointly
• Highlight key ethical considerations when applying these measures across genetically and socially diverse populations