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

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

Genetics in medicine, 2018-04, Vol.20 (4), p.435-443 [Periódico revisado por pares]

United States: Elsevier Limited

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