A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Genetics in Medicine

Volumn 18, Issue 11, 2016, Pages 1090-1096

  Stark, Zornitza ^a   Tan, Tiong Y ^a,b   Chong, Belinda ^a   Brett, Gemma R ^a,e   Yap, Patrick ^a   Walsh, Maie ^a   Yeung, Alison ^a   Peters, Heidi ^a,b,d   Mordaunt, Dylan ^a,b,d   Cowie, Shannon ^a   Amor, David J ^a,b   Savarirayan, Ravi ^a,b   McGillivray, George ^a   Downie, Lilian ^a   Ekert, Paul G ^a,b   Theda, Christiane ^a,b,c   James, Paul A ^f   Yaplito Lee, Joy ^a,d   Ryan, Monique M ^a,b,d   Leventer, Richard J ^a,b,d   Creed, Emma ^a,e,f   Macciocca, Ivan ^a   Bell, Katrina M ^a   Oshlack, Alicia ^a,b   Sadedin, Simon ^a   Georgeson, Peter ^b   Anderson, Charlotte ^b   Thorne, Natalie ^a,b,e   Gaff, Clara ^b,e   White, Susan M ^a,b   more..

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ROYAL WOMEN'S HOSPITAL   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e Melbourne Genomics Health Alliance   (Australia)

^f ROYAL MELBOURNE HOSPITAL   (Australia)

Author keywords

clinical utility; first tier; monogenic; singleton WES

Indexed keywords

ARTICLE; CHILD; DIAGNOSTIC VALUE; EVALUATION STUDY; EXOME; FEMALE; GENOME ANALYSIS; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MONOGENIC DISORDER; NEWBORN; PROSPECTIVE STUDY; SEQUENCE ANALYSIS; GENETIC DISEASES, INBORN; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR PATHOLOGY; PROCEDURES;

EXOME; GENETIC DISEASES, INBORN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT, NEWBORN; PATHOLOGY, MOLECULAR;

EID: 84994107989     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.1     Document Type: Article

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