The importance of dynamic re-analysis in diagnostic whole exome sequencing

Journal of Medical Genetics

Volumn 54, Issue 3, 2017, Pages 155-156

  Need, Anna C ^a   Shashi, Vandana ^b   Schoch, Kelly ^b   Petrovski, Slavé ^c,d   Goldstein, David B ^c  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Columbia University ^*  (United States)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EXOME; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; LOSS OF FUNCTION MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIATION; PROCEDURES; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY; STANDARDS;

EXOME; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETIC VARIATION; HUMANS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; WHOLE EXOME SEQUENCING;

EID: 85005942692     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-104306     Document Type: Article

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