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...
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| Auteurs principaux: | , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2017
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/34acd2ac6ca34b8b9c81f36ceb50a9d4 |
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