MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing
Human Mutation2021Vol. 42(4), pp. 342–345
Citations Over TimeTop 25% of 2021 papers
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.
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