| Literature DB >> 33600011 |
Alida Palmisano1,2, Suleyman Vural1, Yingdong Zhao1, Dmitriy Sonkin1.
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. Published 2021. This article is a U.S. Government work and is in the public domain in the USA.Entities:
Keywords: MutSpliceDB; RNA-seq; splice sites; splice variants; splicing
Mesh:
Substances:
Year: 2021 PMID: 33600011 DOI: 10.1002/humu.24185
Source DB: PubMed Journal: Hum Mutat ISSN: 1059-7794 Impact factor: 4.878