norbertdeutsch.bsky.social
@norbertdeutsch.bsky.social
(5/5)
Detailed case studies (POLK, FOXP2, LMOD3) demonstrate how disrupting these motifs can drive specific diseases—ranging from cancer to neurodevelopmental and muscular disorders. 🔍
May 7, 2025 at 9:56 AM
(4/5)
Based on these signals, we built a classifier to prioritize clinically relevant motifs (PEMs) within IDRs—uncovering novel connections to neurological, cardiovascular, and cancer-associated genes. 🚨
May 7, 2025 at 9:56 AM
(3/5)
Using AlphaMissense, a powerful deep-learning tool, we identified unique "island-like" pathogenicity patterns in IDRs, signaling functionally critical segments vulnerable to disease mutations. 📈
May 7, 2025 at 9:56 AM
(2/5)
Analyzing nearly 1 million ClinVar variants, we discovered pathogenic mutations enriched in short linear motifs (SLiMs) and disordered binding sites, highlighting their functional importance. 🔬
May 7, 2025 at 9:56 AM
(3/5)
Using AlphaMissense, a powerful deep-learning tool, we identified unique "island-like" pathogenicity patterns in IDRs, signaling functionally critical segments vulnerable to disease mutations. 📈
May 7, 2025 at 9:51 AM
(2/5)
Analyzing nearly 1 million ClinVar variants, we discovered pathogenic mutations enriched in short linear motifs (SLiMs) and disordered binding sites, highlighting their functional importance. 🔬
May 7, 2025 at 9:51 AM