Data-driven insights to inform splice-altering variant assessment Predicting the functional consequences of a putative splice-altering variant (SAV) is challenging. Here, we present a comprehensive framework for evaluating SAVs and predicting their functional conseq...

Are you looking for data-driven heuristics to help you interpret splice-altering variants?

Then don’t waste a moment. Click on over to @ajhgnews.bsky.social to check out our new paper that was described as a “tour de force”!

www.cell.com/ajhg/fulltex...

26.03.2025 13:42 — 👍 3    🔁 2    💬 0    📌 0

Data-driven insights to inform splice-altering variant assessment Predicting the functional consequences of a putative splice-altering variant (SAV) is challenging. Here, we present a comprehensive framework for evaluating SAVs and predicting their functional conseq...

Are you looking for data-driven heuristics to help you interpret splice-altering variants?

Then don’t waste a moment. Click on over to @ajhgnews.bsky.social to check out our new paper that was described as a “tour de force”!

www.cell.com/ajhg/fulltex...

26.03.2025 13:42 — 👍 3    🔁 2    💬 0    📌 0