The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease

Pediatric Nephrology

Volumn 30, Issue 11, 2015, Pages 1893-1901

  Savige, Judy ^a   Dalgleish, Raymond ^b   Cotton, Richard GH ^a   den Dunnen, Johan T ^c   Macrae, Finlay ^a,d   Povey, Sue ^e  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY OF LEICESTER   (United Kingdom)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ROYAL MELBOURNE HOSPITAL   (Australia)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

DNA variant database; Genetic variant; Inherited disease; Pathogenicity; Phenotype

Indexed keywords

DNA;

COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; DNA SEQUENCE; GENETIC ALGORITHM; GENETIC CORRELATION; GENETIC DATABASE; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HUMAN; KIDNEY DISEASE; NEPHROLOGIST; NEXT GENERATION SEQUENCING; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; GENETIC PREDISPOSITION; GENETICS; MUTATION; NUCLEIC ACID DATABASE; STANDARDS;

DATABASES, NUCLEIC ACID; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY DISEASES; MUTATION;

EID: 84942370536     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-014-2994-1     Document Type: Review

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