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!

06.11.2025 06:15 — 👍 1    🔁 2    💬 0    📌 0

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

29.05.2025 18:29 — 👍 60    🔁 28    💬 1    📌 2

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/)

29.05.2025 23:57 — 👍 60    🔁 21    💬 1    📌 1