The Intelligent Genome: Powered by AI

A two-day online symposium from the American Society of Human Genetics on how artificial intelligence and machine learning are changing the way genetic and genomic discoveries get made. Thursday 24 and Friday 25 September 2026, 14:30–20:00 UK time (9:30am–3:00pm ET).

Sixteen speakers from universities, health systems and industry set out what AI is actually doing in human genetics right now: predicting gene expression, interpreting non-coding variants, classifying variants against ClinGen specifications, and triaging RNA-seq outliers towards a diagnosis. Talks run to thirty minutes, with a panel discussion closing each half-day, so there is room to put questions to the speakers.

A good deal of it will land for people working on neurodegeneration. AlphaGenome applied to rare non-coding variant discovery, generative models forecasting individual risk across many diseases, and AI-derived imaging phenotypes as a route to genetic discovery all sit close to problems the dementia field is working on, from consortium-scale genomics to variant interpretation. If you have been following agentic AI and where it might take research, or our earlier conversation on using AI and data to fight dementia, this is a chance to see the tooling in the hands of the people building it.

Event details

• Dates: Thursday 24 and Friday 25 September 2026
• Times: 14:30–20:00 BST each day (9:30am–3:00pm ET)
• Format: Live online
• Continuing education: attendees are eligible to claim 6 CE
• Organiser: American Society of Human Genetics

Programme

Times below are US Eastern (ET), as published by ASHG. Each day runs 9:30am to 3:00pm ET, with a break from 12:00 to 1:00pm.

Day one – Thursday 24 September 2026

• 9:30am From Data to Insight: The Strategic Potential of AI in Human Genetics and Genomics – Ankit Malhotra, AWS Healthcare and Life Sciences
• 10:00am Evaluation of a novel AI agent for statistical genetics and target discovery – Vincent Plagnol, Genomics Ltd
• 10:30am Beyond Sequence-Based Models: Deep Hurdle Network Improves Gene Expression Prediction – Devashish Tripathi, BRIC-National Institute of Biomedical Genomics
• 11:00am Genetic discovery via AI-derived imaging phenotypes – Degui Zhi, Yale University
• 11:30am Panel discussion with all speakers
• 1:00pm Unsupervised graph learning on a large-scale paediatric EHR-linked biobank – Rasika Venkatesh, University of Pennsylvania
• 1:30pm AI-enabled DNAm classification of variants in neurodevelopmental disorders – Sanaa Choufani, The Hospital for Sick Children
• 2:00pm From Hundreds of Outliers to One Diagnosis: agentic AI for scalable RNA-seq triage – Shamika Ketkar, Baylor College of Medicine
• 2:30pm Panel discussion with all speakers

Day two – Friday 25 September 2026

• 9:30am Application of AlphaGenome to rare non-coding variant discovery and interpretation – Gareth Hawkes, University of Exeter
• 10:00am VCEPilot: agentic AI execution of ClinGen VCEP specifications for expert-aligned variant classification – Xun Song, New Jersey Institute of Technology
• 10:30am MARRVEL-MCP: an agentic interface for Mendelian disease discovery – Hyun-Hwan Jeong, Baylor College of Medicine
• 11:00am Supervised generative AI for holistic germline variant summarisation – Jose Reverol, Saphetor SA
• 11:30am Panel discussion with all speakers
• 1:00pm AI-enhanced quality improvement to optimise germline genetic testing in advanced prostate cancer – Kenneth Nepple, University of Iowa Health Care
• 1:30pm A generative transformer trained with genetics for forecasting an individual’s risk across many diseases – Bertram Koelsch, 23andMe Research Institute
• 2:00pm Genelio: talking to your DNA through retrieval-grounded, ACMG-aware plain-language interpretation – Vani Priyadarsini Ikkurti, BioAro Inc
• 2:30pm Panel discussion with all speakers

Registration and fees

Registration is through the ASHG learning portal and rates depend on membership type and career stage. Graduate students, undergraduates, postdoctoral fellows, residents, clinical fellows and trainee members pay $55. Early career members pay $75, regular, emeritus and life members $95, and non-members $120.

Register for The Intelligent Genome: Powered by AI

The American Society of Human Genetics is the professional membership organisation for human genetics and genomics specialists worldwide, with members in more than 80 countries.