Article
Clinical application of whole-exome sequencing across clinical indications.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2016
Retterer Kyle, Juusola Jane, Cho Megan T, Vitazka Patrik, Millan Francisca, Gibellini Federica, Vertino-Bell Annette, Smaoui Nizar, Neidich Julie, Monaghan Kristin G, McKnight Dianalee, Bai Renkui, Suchy Sharon, Friedman Bethany, Tahiliani Jackie, Pineda-Alvarez Daniel, Richard Gabriele, Brandt Tracy, Haverfield Eden, Chung Wendy K, Bale Sherri
Abstract excerpt
PURPOSE: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory. METHODS: WES was performed for many different clinical indications and included the proband plus two or more family members in 76% of cases. RESULTS: The overall diagnostic yield of WES was 28.8%. The diagnostic yield was 23.6% in proband-only cases and 31.0% when three family...
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