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

Volumn 20, Issue 4, 2018, Pages 435-443

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

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c Deep Genomics Inc   (Canada)

^d William Osler Health Centre   (Canada)

^e BC CHILDREN S HOSPITAL   (Canada)

^f CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h UNIVERSITY OF TORONTO   (Canada)

ⁱ UNIVERSITY OF ALBERTA   (Canada)

^j ST JOSEPH S HEALTH CENTRE   (Canada)

^k UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

copy number variation; diagnostics; next generation sequencing; noncoding; whole genome sequencing

Indexed keywords

ADULT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC VALUE; EXON; FEMALE; GENE; GENE TARGETING; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PIGG GENE; PROSPECTIVE STUDY; RNU4ATAC GENE; TRIO GENE; UNC13A GENE; WHOLE GENOME SEQUENCING; BIOLOGY; COPY NUMBER VARIATION; DNA SEQUENCE; EXOME; GENETIC ASSOCIATION STUDY; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; MOLECULAR GENETICS; PROCEDURES; STANDARDS; WHOLE EXOME SEQUENCING;

COMPUTATIONAL BIOLOGY; DNA COPY NUMBER VARIATIONS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; HUMANS; MALE; MOLECULAR SEQUENCE ANNOTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING;

EID: 85039709174     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.119     Document Type: Article

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