E-SNPs&GO: embedding of protein sequence and function improves the annotation of human pathogenic variants.
Journal:
Bioinformatics (Oxford, England)
PMID:
36227117
Abstract
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 encoding, bypassing database searches for evolutionary information. We leverage the new encoding schemes for an efficient annotation of protein variants.