MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.
Hum Mutat
; 42(4): 342-345, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33600011
ABSTRACT
Splice site variants may lead to transcript alterations, causing exons inclusion, exclusion, truncation, or intron retention. Interpreting the consequences of a specific splice site variant is not straightforward, especially if the variant is located outside of the canonical splice sites. We developed MutSpliceDB https//brb.nci.nih.gov/splicing, a public resource to facilitate the interpretation of splice sites variants effects on splicing based on manually reviewed RNA-seq BAM files from samples with splice site variants.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Splicing de RNA
/
Sítios de Splice de RNA
Limite:
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article