Synapse: Your Connection to our MSK Authors
Meet: Jeremy Setton
Research Focus: Radiation Oncology; Assistant Attending L1

AlphaMissense for identifying pathogenic missense mutations in DNA damage repair genes in cancer
synapse.mskcc.org/synapse/peop...

#AlphaMissense #MissenseMutations #Genes

AlphaGenome, a Swiss-army knife for exploring non-coding DNA AlphaGenome, recently announced in a preprint by Avsec et al., is Google DeepMind’s powerful ‘Swiss army knife’ for predicting molecular effects from …

La #IA al servicio de la ciencia: #LLM para descodificar las proteínas (#AlphaFold y #AlphaProteo) y el DNA (#AlphaGenome y #AlphaMissense).

www.sciencedirect.com/science/arti...

Harvard's popEVE AI Model Identifies 123 Novel Disease Genes - WinBuzzer Harvard Medical School has unveiled popEVE, an genetic disease AI model that outperforms Google DeepMind's AlphaMissense by reducing false positive genetic diagnoses.

winbuzzer.com/2025/11/24/h...

Harvard’s popEVE AI Model Identifies 123 Novel Disease Genes

#AI #GoogleDeepMind #MedicalResearch #Genetics #RareDiseases #popEVE #AlphaMissense #HealthTech #Science #MachineLearning #Bioinformatics #Harvard

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...

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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

AlphaMissenseR: an integrated framework for investigating missense mutations in human protein-coding genes AbstractSummary. AlphaMissense is an AI model from Google DeepMind that predicts the pathogenicity of every possible missense mutation in the human proteom

A nice paper from Martin Morgan and colleagues in @bioinfoadv.bsky.social | AlphaMissenseR: an integrated framework for investigating missense mutations in human protein-coding genes | #Bioinformatics #AlphaMissense #Alphafold #RStats #Bioconductor 🧬 🖥️ 🧪 🔓
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academic.oup.com/bioinformati...

Using strict colocalization we find that ~45% of genes associated with 9,804 GWAS phenotypes exhibit isoform-specific effects have isoform-level effects!

Switching to analyzing rare variants, we considered ~25M potential isoform-specific missense variants predicted by #AlphaMissense. 👇