Article
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018
Lionel Anath C, Costain Gregory, Monfared Nasim, Walker Susan, Reuter Miriam S, Hosseini S Mohsen, Thiruvahindrapuram Bhooma, Merico Daniele, Jobling Rebekah, Nalpathamkalam Thomas, Pellecchia Giovanna, Sung Wilson W L, Wang Zhuozhi, Bikangaga Peter, Boelman Cyrus, Carter Melissa T, Cordeiro Dawn, Cytrynbaum Cheryl, Dell Sharon D, Dhir Priya, Dowling James J, Heon Elise, Hewson Stacy, Hiraki Linda, Inbar-Feigenberg Michal, Klatt Regan, Kronick Jonathan, Laxer Ronald M, Licht Christoph, MacDonald Heather, Mercimek-Andrews Saadet, Mendoza-Londono Roberto, Piscione Tino, Schneider Rayfel, Schulze Andreas, Silverman Earl, Siriwardena Komudi, Snead O Carter, Sondheimer Neal, Sutherland Joanne, Vincent Ajoy, Wasserman Jonathan D, Weksberg Rosanna, Shuman Cheryl, Carew Chris, Szego Michael J, Hayeems Robin Z, Basran Raveen, Stavropoulos Dimitri J, Ray Peter N, Bowdin Sarah, Meyn M Stephen, Cohn Ronald D, Scherer Stephen W, Marshall Christian R
Abstract excerpt
PurposeGenetic testing is an integral diagnostic component of pediatric medicine. Standard of care is often a time-consuming stepwise approach involving chromosomal microarray analysis and targeted gene sequencing panels, which can be costly and inconclusive. Whole-genome sequencing (WGS) provides a comprehensive testing platform that has the potential to streamline genetic assessments, but there are limited...
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