Standard development at the Human Variome Project

Database

Volumn 2015, Issue , 2015, Pages

  Smith, Timothy D ^a   Vihinen, Mauno ^b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b LUND UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GENETIC VARIATION; HUMAN; HUMAN GENOME; HUMAN GENOME PROJECT;

GENETIC VARIATION; GENOME, HUMAN; HUMAN GENOME PROJECT; HUMANS;

EID: 84938291989     PISSN: 17580463     EISSN: None     Source Type: Journal    
DOI: 10.1093/database/bav024     Document Type: Article

References (6)

1. Wildeman, M., van Ophuizen, E., den Dunnen, J.T. et al. (2008) Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat., 29, 6-13.
2. Dalgleish, R., Flicek, P., Cunningham, F. et al. (2010) Locus reference genomic sequences: an improved basis for describing human DNA variants. Genome Med., 2, 24.
3. Fokkema, I.F., Taschner, P.E., Schaafsma, G.C. et al. (2011) LOVD v.2.0: the next generation in gene variant databases. Hum. Mutat., 32, 557-563.
4. den Dunnen, J.T. and Antonarakis, S.E. (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutat., 15, 7-12.
5. Byrne, M., Fokkema, I.F., Lancaster, O. et al. (2012) VarioML framework for comprehensive variation data representation and exchange. BMC Bioinformatics, 13, 254.
6. Vihinen, M. (2014) Variation Ontology for annotation of variation effects and mechanisms. Genome Res., 24, 356-364.