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Article

E-SNPs&GO: embedding of protein sequence and function improves the annotation of human pathogenic variants.

Bioinformatics (Oxford, England) - 30 Nov 2022

Manfredi Matteo, Savojardo Castrense, Martelli Pier Luigi, Casadio Rita

Abstract excerpt

MOTIVATION: The advent of massive DNA sequencing technologies is producing a huge number of human single-nucleotide polymorphisms occurring in protein-coding regions and possibly changing their sequences. Discriminating harmful protein variations from neutral ones is one of the crucial challenges in precision medicine. Computational tools based on artificial intelligence provide models for protein sequence...

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PMID: 36227117
DOI: 10.1093/bioinformatics/btac678
PMCID: PMC9710551

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