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

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 st...

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Detalles Bibliográficos
Autores principales: Wang, Qingyu, Shashikant, Cooduvalli S., Jensen, Matthew, Altman, Naomi S., Girirajan, Santhosh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429826/
https://www.ncbi.nlm.nih.gov/pubmed/28408746
http://dx.doi.org/10.1038/s41598-017-01005-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429826/
https://www.ncbi.nlm.nih.gov/pubmed/28408746
http://dx.doi.org/10.1038/s41598-017-01005-x

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