ryandav1s.bsky.social
@ryandav1s.bsky.social
Reposted
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...
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...
www.cell.com
March 26, 2025 at 1:42 PM
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...
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...
www.cell.com
March 26, 2025 at 1:42 PM