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...
Enregistré dans:
| Auteurs principaux: | , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2017
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/34acd2ac6ca34b8b9c81f36ceb50a9d4 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|