Cohort-scale variant reanalysis with agentic AI: GEMINI and SouthSeq
When a variant classification happens on someone’s genome, it’s a snapshot of what was knowable that day. Obviously with time, the evidence underneath it keeps moving.
Blog
Notes from Gamow Labs.
On genomic interpretation, clinical AI, and living diagnoses.
Gamow Labs’ submission to the Rare Disease, Real Kid: The MVA Hackathon 2026
Yesterday, HuggingFace – in collaboration with the MVA Society, SageBionetworks, BEACON, Anthropic, and Amazon Web Services (AWS) – announced a hackathon aimed at finding answers for a child living with Mosaic Variegated Aneuploidy (MVA).
RareBench 0.1: Benchmarking agentic AI for rare disease diagnosis
About 30% of newborns with a suspected rare disease receive a diagnosis. We think that number should be much higher.
SOTA genome interpretation with agentic AI: An interstitial lung disease case study
Over the past few years, overwhelming evidence has emerged that expanding access to whole genome sequencing improves clinical and economic outcomes in the NICU, a setting highly enriched for genetic disease.
Vibe coding my way to a healthy family: Introducing Gamow Labs
On September 23rd, 2021, my first son Owen was born. Clearly inheriting his mom’s type-A personality, he arrived on his due date at a chunky 8.75 lbs. We were over the moon.