Article

Predicting hotspots for disease-causing single nucleotide variants using sequences-based coevolution, network analysis, and machine learning

2023-08-31

Abstract excerpt

To enable personalized genetics and medicine, it is important yet highly challenging to accurately predict disease-causing mutations from the sequences alone at high throughput. To meet this challenge, we build upon recent progress in machine learning, network analysis, and protein language models, and develop a sequences-based variant site prediction workflow based on the protein residue contact networks: 1. We e...

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Literature Corpus work: 6ac91285-1775-53fb-9470-9465a1214386
DOI: 10.22541/au.169346898.82764805/v1

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