Answers are grounded in this paper and cite their sources.
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.
No takes yet. Share an insight, caveat, or question.
Palmisano et al. (2021) studied this question.
Synapse has enriched 10 related papers. Consider them for comparative context: