@julirsch.bsky.social
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!
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...
Flexibly Modeling Rare Variant Pathogenicity Improves Gene Discovery for Complex Traits
Rare variant burden tests can directly identify genes that influence complex traits, but their power is limited by our ability to separate functional from benign alleles. We introduce FlexRV, an appro...
www.biorxiv.org
November 6, 2025 at 6:15 AM
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!
Reposted
We're thrilled to introduce PromoterAI — a tool for accurately identifying promoter variants that impact gene expression. 🧵 (1/)
May 29, 2025 at 6:29 PM
We're thrilled to introduce PromoterAI — a tool for accurately identifying promoter variants that impact gene expression. 🧵 (1/)
Reposted
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/)
May 29, 2025 at 11:57 PM
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/)