Human Genome Variation Society

RGH Cotton, Genomic Disorders Research Centre, Melbourne, Australia
O Horaitis, Genomic Disorders Research Centre, Melbourne, Australia

Published online: January 2006

DOI: 10.1038/npg.els.0005964

Establishing a collection of DNA mutations in genes, especially those that cause single-gene disorders (mutations), is challenging because there may be tens of millions of them. The Human Genome Variation Society was formed to promote this activity.

Keywords: mutations; databases; polymorphisms; SNPs

 Further Reading
    Claustres M, Horaitis O, Vanevski M and Cotton RGH (2002) Time for a unified system of mutation description and reporting: A Review of Locus Specific Mutation Databases. Genome Research, 12: 680–688.
    Cotton RGH and Horaitis O (2000) Quality control in the discovery, reporting, and recording of genomic variation. Human Mutation 15: 16–21.
    Hamosh A, Scott AF, Amberger J, Valle D and McKusick VA (2000) Online Mendelian Inheritance In Man (OMIM). Human Mutation 15: 57–61.
    book Horaitis O, Scriver CR and Cotton RGH (2001) "Mutation Databases: Overview and Catalogues". In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds.) The Metabolic and Molecular Bases of Inherited Disease, 8th ed., pp. 113–125. USA: McGraw-Hill.
    Krawczak M, Ball EV, Fenton I, et al. (2000) Human Gene Mutation Database – a biomedical information and research resource. Human Mutation 15(1): 45–51.
    Minoshima S, Mitsuyama S, Ohtsubo M, et al. (2001) The KMDB/Mutation View: a mutation database for human disease genes. Nucleic Acids Research 29(1): 327–328.
    Nowacki PM, Byck S, Prevost L and Scriver CR (1998) PAH Mutation Analysis Consortium Database: prototype for relational locus-specific mutation databases. Nucleic Acids Research 26: 220–225.
    Scriver CR and Nowacki PM (1999) Genomics, mutations and the Internet: the naming and use of parts. Journal of Inherited and Metabolic Diseases 22: 519–530.
    Scriver CR, Nowacki PM and Lehväslaiho H (1999) Guidelines and recommendations for content, structure and deployment of mutation databases. Human Mutation 13: 344–350.
    Scriver CR, Nowacki PM and Lehväslaiho H (2000) Guidelines and recommendations for content, structure, and deployment of mutation databases: II. journey in progress. Human Mutation 15: 13–15.
    Sherry ST, Ward MH, Kholodov M,et al. (2001) dbSNP: the NCBI database of genetic variation. Nucleic Acids Research 29(1): 308–311.
 Web Links
    ePath Phenylalanine Hydroxylase Locus Knowledgebase (PAHdb) http://data.mch.mcgill.ca/pahdb_new/
    ePath Globin Gene Server http://globin.cse.psu.edu/
    ePath Blood Group Antigen Gene Mutation Database http://www.bioc.aecom.yu.edu/bgmut/index.htm
    ePath Human Gene Mutation Database (HGMD) http://www.hgmd.org
    ePath Human Genome Variation Society http://www.hgvs.org
    ePath Human Mutation. [A special issue of the journal.] http://www.wiley.com/genetics/HUMUMDI
    ePath HGVSYS WayStation http://www.centralmutations.org
    ePath HGVSYS WareHouse HGVbase http://hgvbase.cgb.ki.se/

Related Sub-Topics:

Gene and Genome Structure and Organisation | DNA Structure and Function | Science and Society - General
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Article Title: Human Genome Variation Society
 
How to Cite close
Cotton, RGH, and Horaitis, O(Jan 2006) Human Genome Variation Society. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005964]