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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2022
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| Materias: | |
| 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 |