Ever wondered how to choose weights for rare variant burden/SKAT tests? @jeremy37.bsky.social and I did too! Check out our (@illumina) straightforward new approach that improves discovery by ~50% or more than STAAR, Regenie, and DeepRVAT!

Jeremy Schwartzentruber@jeremy37.bsky.social · 10mo ago

Let’s talk about rare variant association tests - we have a new method that helps you discover more with the same data! It’s called *FlexRV* to signal our approach: “flexibly modeling rare variant pathogenicity improves gene discovery for complex traits”. www.biorxiv.org/content/10.1...

We're thrilled to introduce PromoterAI — a tool for accurately identifying promoter variants that impact gene expression. 🧵 (1/)

Excited to share my first contribution here at Illumina! We developed PromoterAI, a deep neural network that accurately identifies non-coding promoter variants that disrupt gene expression.🧵 (1/)