Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Volume: 27, Issue: 9, Pages: 1398 - 1405
Published: Apr 12, 2019
Abstract
Clinical exome sequencing (CES) is increasingly being utilized; however, a large proportion of patients remain undiagnosed, creating a need for a systematic approach to increase the diagnostic yield. We have reanalyzed CES data for a clinically heterogeneous cohort of 102 probands with likely Mendelian conditions, including 74 negative cases and 28 cases with candidate variants, but reanalysis requested by clinicians. Reanalysis was performed by...
Paper Details
Title
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Published Date
Apr 12, 2019
Volume
27
Issue
9
Pages
1398 - 1405
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