The Human Variome Project (HVP) 2009 forum "towards establishing standards"

Human Mutation

Volumn 31, Issue 3, 2010, Pages 366-367

  Howard, Heather J ^a   Horaitis, Ourania ^a   Cotton, Richard G H ^a,b   Vihinen, Mauno ^c   Dalgleish, Raymond ^d   Robinson, Peter ^e   Brookes, Anthony J ^e   Axton, Myles ^f   Hoffmann, Robert ^g   Tuffery Giraud, Sylvie ^h  

^a Genomic Disorders Research Centre   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF TAMPERE   (Finland)

^d UNIVERSITY OF LEICESTER   (United Kingdom)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f Nature Genetics   (United States)

^g MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^h UNIV MONTPELLIER   (France)

Author keywords

Database; Genetic disease; HVP; Mutation; SNP

Indexed keywords

COMMUNITY; CONFERENCE PAPER; GENE MUTATION; GENETIC VARIABILITY; HUMAN; LABORATORY; MEDICAL GENETICS; MEDICAL RESEARCH; MUTATION; NOMENCLATURE; PRIORITY JOURNAL;

ALGORITHMS; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME, HUMAN; GENOMICS; HUMANS; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 77149123603     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21175     Document Type: Conference Paper

References (4)

1. Antonarakis SE, Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3.
2. Brookes AJ, Lehvaslaiho H, Muilu J, Shigemoto Y, Oroguchi T, Tomiki T, Mukaiyama A, Konagaya A, Kojima T, Inoue I, Kuroda M, Mizushima H, Thorisson GA, Dash D, Rajeevan H, Darlison MW, Woon M, Fredman D, Smith AV, Senger M, Naito K, Sugawara H. 2009. The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation. Hum Mutat 30:968-977.
3. Hoffmann R. 2008. A wiki for the life sciences where authorship matters. Nat Genet 40:1047-1051.
4. Tuffery-Giraud S, Beroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossee M, Boisseau P, Blayau M, Creveaux I, Guiochon-Mantel A, de Martinville B, Philippe C, Monnier N, Bieth E, Khau Van Kien P, Desmet FO, Humbertclaude V, Kaplan JC, Chelly J, Claustres M. 2009. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat 30:934-945.