Pathogenic Missense Mutations in Intrinsically Disordered Regions Reveal Functional and Clinical Signals https://www.biorxiv.org/content/10.1101/2025.05.01.651640v1

(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. 🔍

(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. 🚨

(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. 📈

(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. 🔬

Pathogenic Missense Mutations in Intrinsically Disordered Regions Reveal Functional and Clinical Signals Intrinsically disordered regions (IDRs) play essential roles in signaling and regulation but remain under-characterized in the context of human disease. We analyzed nearly one million ClinVar missense...

(1/5)
Excited to share our latest preprint! We reveal how intrinsically disordered protein regions (IDRs) harbor critical pathogenic mutations, often overlooked in clinical genomics. 🧬
www.biorxiv.org/content/10.1...

#Genomics #Bioinformatics #AlphaMissense #IDPs #SLiMs #Dlab #IDP2Biomed #IDPfun2

(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. 📈

(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. 🔬

AIUPred - Binding: energy embedding to identify disordered binding regions Intrinsically disordered regions (IDRs) play critical roles in various cellular processes, often mediating interactions through disordered binding reg…

I'm excited to share that our latest manuscript accepted and published in JMB.
We created AIUPred-binding which use energy embedding and AlphaMissense scores to accurately predict functional binding regions in IDRs.
sciencedirect.com/science/arti...

#IDP2Biomed, #Dosztanyilab, @gerdos.bsky.social

I'm excited to share our preprint, created in collaboration with the @teamgogl.bsky.social , where we at @idp2biomed.bsky.social (Dosztányi lab) performed the bioinformatics analysis for the manuscript.

Welcome to the IDP2Biomed project! The “Bringing Intrinsically Disordered Proteins to Biomedical Applications” Twinning Program has been launched on 01/10/2024 with the aim of strengthening scientific excellence and innovation capacity at the interface of biology and chemistry at the ELTE.

ViralPrimer: a Web Server to Monitor Viral Nucleic Acid Amplification Tests’ Primer Efficiency during Pandemics, with Emphasis on SARS-CoV-2 and Mpox AbstractSummary. Accurate pathogen identification is crucial during outbreaks, especially with the emergence of new variants requiring frequent primer upda

🎉 Thrilled to announce that our paper is now accepted in Bioinformatics! 📄🧬✨ A collaborative project enhancing diagnostic accuracy for SARS-CoV-2, Mpox, and more. 🌐🔬 Check it out: viralprimer.elte.hu

Manuscript:
academic.oup.com/bioinformati...

#DosztanyiLAB #Bioinformatics #SARS-CoV-2 #Webserver

Deep learning for intrinsically disordered proteins: From improved predictions to deciphering conformational ensembles Intrinsically disordered proteins (IDPs) lack a stable three-dimensional structure under physiological conditions, challenging traditional structure-b…

🚀 Excited to announce our latest paper just published! Discover new insights into protein disorder and prediction methods in computational biology. Read more here: www.sciencedirect.com/science/arti... #DosztanyiLAB #Bioinformatics #IDPs #ProteinResearch