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MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.

Alida PalmisanoSuleyman VuralYingdong ZhaoDmitriy Sonkin
Published in: Human mutation (2021)
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.
Keyphrases
  • rna seq
  • single cell
  • copy number
  • healthcare
  • emergency department
  • dna methylation
  • adverse drug