Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage.

ABSTRACT: Advantages and diagnostic effectiveness of the two most widely used resequencing approaches, whole exome (WES) and whole genome (WGS) sequencing, are often debated. WES dominated large-scale resequencing projects because of lower cost and easier data storage and processing. Rapid development of 3^rd generation sequencing methods and novel exome sequencing kits predicate the need for a robust statistical framework allowing informative and easy performance comparison of the emerging methods. In our study we developed a set of statistical tools to systematically assess coverage of coding regions provided by several modern WES platforms, as well as PCR-free WGS. We identified a substantial problem in most previously published comparisons which did not account for mappability limitati

SUBMITTER: Barbitoff YA 

PROVIDER: S-EPMC7005158 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature