Intronic position +9 and -9 are potentially splicing sites boundary from intronic variants analysis of whole exome sequencing data.

ABSTRACT: Whole exome sequencing (WES) can also detect some intronic variants, which may affect splicing and gene expression, but how to use these intronic variants, and the characteristics about them has not been reported. This study aims to reveal the characteristics of intronic variant in WES data, to further improve the clinical diagnostic value of WES. A total of 269 WES data was analyzed, 688,778 raw variants were called, among these 367,469 intronic variants were in intronic regions flanking exons which was upstream/downstream region of the exon (default is 200 bps). Contrary to expectation, the number of intronic variants with quality control (QC) passed was the lowest at the +2 and -2 positions but not at the +1 and -1 positions. The plausible explanation was that the former had the worst e

SUBMITTER: Zhang L 

PROVIDER: S-EPMC10291791 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature