Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

Human Mutation

Volumn 33, Issue 5, 2012, Pages 787-796

  Riggs, Erin Rooney ^a   Jackson, Laird ^b   Miller, David T ^c   Van Vooren, Steven ^d  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d NONE

Author keywords

Cnv; Copynumber variation; Genotype phenotype correlation; Oligonucleotide array sequence analysis

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CLINICAL RESEARCH; CYTOGENETICS; GENE TECHNOLOGY; GENETIC DATABASE; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN GENETICS; INTERNATIONAL COOPERATION; PHENOTYPE; PRIORITY JOURNAL; STANDARDIZATION; DATA MINING; GENETIC ASSOCIATION; MEDICAL INFORMATICS; PERSONALIZED MEDICINE;

CYTOGENETIC ANALYSIS; DATA MINING; DATABASES, GENETIC; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INDIVIDUALIZED MEDICINE; MEDICAL INFORMATICS; PHENOTYPE;

EID: 84864331137     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22052     Document Type: Article

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