WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data.

ABSTRACT: In clinical genetics, detection of single nucleotide polymorphisms (SNVs) as well as copy number variations (CNVs) is essential for patient genotyping. Obtaining both CNV and SNV information from WES data would significantly simplify clinical workflow. Unfortunately, the sequence reads obtained with WES vary between samples, complicating accurate CNV detection with WES. To avoid being dependent on other samples, we developed a within-sample comparison approach (WISExome). For every (WES) target region on the genome, we identified a set of reference target regions elsewhere on the genome with similar read frequency behavior. For a new sample, aberrations are detected by comparing the read frequency of a target region with the distribution of read frequencies in the reference set. WISExome c

SUBMITTER: Straver R 

PROVIDER: S-EPMC5865163 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature