Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 11, 2012, Pages 2763-2766

  Howard, Heather J ^a   Beaudet, Arthur ^b   Gil da Silva Lopes, Vera ^c   Lyne, Mike ^d   Suthers, Graeme ^e   Van den Akker, Peter ^f   Wertheim Tysarowska, Katarzyna ^g   Willems, Patrick ^h   Macrae, Finlay ^a  

^a FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CAMPINAS   (Brazil)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e SA Clinical Genetics Service   (Australia)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g INSTITUTE OF MOTHER AND CHILD   (Poland)

^h Genetic Diagnostics Belgium   (Belgium)

Author keywords

Disease specific database; LSDB; Mutation; Variation

Indexed keywords

BIOINFORMATICS; CONFERENCE PAPER; DISEASE SPECIFIC DATABASE; GENE SEQUENCE; GENETIC COUNSELING; GENETIC DATABASE; GENETIC DISORDER; GENETIC MODEL; GENETIC ORGANIZATION; GENETICS; GENOME ANALYSIS; HUMAN GENETICS; HUMAN GENOME; HUMAN VARIOME PROJECT; INTERNATIONAL COOPERATION; LOCUS SPECIFIC DATABASE; MEDICAL EXPERT; MEDICAL INFORMATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; PRACTICE GUIDELINE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

COMPUTATIONAL BIOLOGY; DATA MINING; DATABASES, GENETIC; GENETIC LOCI; GENETIC VARIATION; HUMANS; INDIVIDUALIZED MEDICINE;

EID: 84867794097     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35392     Document Type: Conference Paper

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