Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Genetics in Medicine

Volumn 20, Issue 10, 2018, Pages 1216-1223

  Wright, Caroline F ^a,b   McRae, Jeremy F ^a   Clayton, Stephen ^a   Gallone, Giuseppe ^a   Aitken, Stuart ^c   FitzGerald, Tomas W ^a   Jones, Philip ^a   Prigmore, Elena ^a   Rajan, Diana ^a   Lord, Jenny ^a   Sifrim, Alejandro ^a   Kelsell, Rosemary ^a   Parker, Michael J ^d   Barrett, Jeffrey C ^a   Hurles, Matthew E ^a   FitzPatrick, David R ^d   Firth, Helen V ^a,e  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

diagnostic yield; exome sequencing; reanalysis; reclassification; recontact

Indexed keywords

ALGORITHM; ARTICLE; CLINICAL PRACTICE; COHORT ANALYSIS; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DISEASE SEVERITY; EVIDENCE BASED PRACTICE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; HEALTH PRACTITIONER; HUMAN; MAJOR CLINICAL STUDY; METHODOLOGY; MOLECULAR GENETICS; WHOLE EXOME SEQUENCING; EXOME; FEMALE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOMICS; HUMAN GENOME; MALE; PATHOLOGY; PROCEDURES; RARE DISEASE; UNITED KINGDOM;

DEVELOPMENTAL DISABILITIES; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOME, HUMAN; GENOMICS; HUMANS; MALE; RARE DISEASES; UNITED KINGDOM; WHOLE EXOME SEQUENCING;

EID: 85055165997     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.246     Document Type: Article

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