Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

BACKGROUND: With the expanded availability of next generation sequencing (NGS)-based clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh the superior coverage of targeted gene panels with the greater number of genes included in whole exome sequencing (WES)...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: LaDuca, Holly, Farwell, Kelly D., Vuong, Huy, Lu, Hsiao-Mei, Mu, Wenbo, Shahmirzadi, Layla, Tang, Sha, Chen, Jefferey, Bhide, Shruti, Chao, Elizabeth C.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5289469/
https://ncbi.nlm.nih.gov/pubmed/28152038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0170843
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