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MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.
Hum Mutat
; 42(4): 342-345, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33600011
RESUMO
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.