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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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Dades bibliogràfiques
Publicat a:PLoS One
Autors principals: LaDuca, Holly, Farwell, Kelly D., Vuong, Huy, Lu, Hsiao-Mei, Mu, Wenbo, Shahmirzadi, Layla, Tang, Sha, Chen, Jefferey, Bhide, Shruti, Chao, Elizabeth C.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Accés en línia: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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