Article

Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity

2016-05-05

Abstract excerpt

<h4>ABSTRACT</h4> Whole Exome Sequencing (WES) is a powerful clinical diagnostic tool for discovering the genetic basis of many diseases. A major shortcoming of WES is uneven coverage of sequence reads over the exome targets contributing to many low coverage regions, which hinders accurate variant calling. In this study, we devised two novel metrics, Cohort Coverage Sparseness (CCS) and Unevenness (U E ) Scores...

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Literature Corpus work: f4e36e99-c240-5fb4-b773-ec86a60fbcfd
DOI: 10.1101/051888

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