Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity
Abstract 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. I...
Main Authors: | Qingyu Wang, Cooduvalli S. Shashikant, Matthew Jensen, Naomi S. Altman, Santhosh Girirajan |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2017-04-01
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Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-017-01005-x |
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