Article
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
PloS one - 1 Jan 2017
LaDuca Holly, Farwell Kelly D, Vuong Huy, Lu Hsiao-Mei, Mu Wenbo, Shahmirzadi Layla, Tang Sha, Chen Jefferey, Bhide Shruti, Chao Elizabeth C
Abstract excerpt
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) when considering their first-tier testing approach. Here, we use an in silico analysis to predict the analytic...
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