Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

C. Lionel, Anath; Costain, Gregory; Monfared, Nasim; Walker, Susan; S. Reuter, Miriam; Mohsen Hosseini, S.; Thiruvahindrapuram, Bhooma; Merico, Daniele; Jobling, Rebekah; Nalpathamkalam, Thomas; Pellecchia, Giovanna; W. L. Sung, Wilson; Wang, Zhuozhi; Bikangaga, Peter; Boelman, Cyrus; T. Carter, Melissa; Cordeiro, Dawn; Cytrynbaum, Cheryl; Dell, Sharon; Dhir, Priya; J. Dowling, James; Héon, Elise; Hewson, Stacy; T. Hiraki, Linda; Inbar‐Feigenberg, Michal; Klatt, Regan; B. Kronick, Jonathan; M. Laxer, Ronald; Licht, Christoph; Robson MacDonald, H.; Mercimek‐Andrews, Saadet; Mendoza‐Londono, Roberto; D. Piscione, Tino; Schneider, Rayfel; Schulze, Andreas; D. Silverman, Earl; Siriwardena, Komudi; Carter Snead, O.; Sondheimer, Neal; Sutherland, Joanne; Vincent, Ajoy; D. Wasserman, Jonathan; Weksberg, Rosanna; Shuman, Cheryl; Carew, Chris; J. Szego, Michael; Z. Hayeems, Robin; Basran, Raveen; J. Stavropoulos, Dimitri; N. Ray, Peter; Bowdin, Sarah; Stephen Meyn, M.; D. Cohn, Ronald; W. Scherer, Stephen; R. Marshall, Christian

doi:10.1038/gim.2017.119

Public

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Published in Genetics in Medicine • Aug 3, 2017

Authors:

Anath C. Lionel

Gregory Costain

Nasim Monfared

Abstract

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...

Subject

Exome sequencing

Whole genome sequencing

Genetic testing

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