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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Detalles Bibliográficos
Autores principales: LaDuca, Holly, Farwell, Kelly D., Vuong, Huy, Lu, Hsiao-Mei, Mu, Wenbo, Shahmirzadi, Layla, Tang, Sha, Chen, Jefferey, Bhide, Shruti, Chao, Elizabeth C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289469/
https://www.ncbi.nlm.nih.gov/pubmed/28152038
http://dx.doi.org/10.1371/journal.pone.0170843

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289469/
https://www.ncbi.nlm.nih.gov/pubmed/28152038
http://dx.doi.org/10.1371/journal.pone.0170843

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