Measuring Coverage and Accuracy of Whole Exome Sequencing in Clinical Context

PURPOSE: To evaluate the coverage and accuracy of whole exome sequencing (WES) across vendors. METHODS: Blood samples from three trios underwent WES at three vendors. Relative performance of the three WES services was measured for breadth and depth of coverage. The false-negative rates (FNR) were es...

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Veröffentlicht in:Genet Med
Hauptverfasser: Kong, Sek Won, Lee, In-Hee, Liu, Xuanshi, Hirschhorn, Joel N., Mandl, Kenneth D.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6185824/
https://ncbi.nlm.nih.gov/pubmed/29789557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2018.51
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