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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Manfredi, Matteo, Savojardo, Castrense, Martelli, Pier Luigi, Casadio, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710551/
https://www.ncbi.nlm.nih.gov/pubmed/36227117
http://dx.doi.org/10.1093/bioinformatics/btac678

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9710551/
https://www.ncbi.nlm.nih.gov/pubmed/36227117
http://dx.doi.org/10.1093/bioinformatics/btac678

Ejemplares similares