Insights on variant analysis in silico tools for pathogenicity prediction.
Front Genet
; 13: 1010327, 2022.
Article
em En
| MEDLINE
| ID: mdl-36568376
ABSTRACT
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, but the interpretation of genetic variants requires expertise and computational power, therefore is still a challenge. Next-generation sequencing releases thousands of variants and to classify them, researchers propose protocols with several parameters. Here we present a review of several in silico pathogenicity prediction tools involved in the variant prioritization/classification process used by some international protocols for variant analysis and studies evaluating their efficiency.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Idioma:
En
Revista:
Front Genet
Ano de publicação:
2022
Tipo de documento:
Article