Blog
On genomic interpretation, clinical AI, and living diagnoses.
Accelerating biological experimentation relies on quickly deciding which experiment comes next. Frontier agents interpret lab data well but rarely choose the right next experiment. Read the preprint (PDF).
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.
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).
About 30% of newborns with a suspected rare disease receive a diagnosis. We think that number should be much higher.
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.
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.