Massive computational identification of somatic variants in exonic splicing enhancers using The Cancer Genome Atlas.

ABSTRACT: Owing to the development of next-generation sequencing (NGS) technologies, a large number of somatic variants have been identified in various types of cancer. However, the functional significance of most somatic variants remains unknown. Somatic variants that occur in exonic splicing enhancer (ESE) regions are thought to prevent serine and arginine-rich (SR) proteins from binding to ESE sequence motifs, which leads to exon skipping. We computationally identified somatic variants in ESEs by compiling numerous open-access datasets from The Cancer Genome Atlas (TCGA). Using somatic variants and RNA-seq data from 9635 patients across 32 TCGA projects, we identified 646 ESE-disrupting variants. The false positive rate of our method, estimated using a permutation test, was approximately 1%. Of t

SUBMITTER: Tanimoto K 

PROVIDER: S-EPMC6885893 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature