Human Genome Variation Society


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.

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

Phenylalanine Hydroxylase Locus Knowledgebase (PAHdb)

Globin Gene Server

Blood Group Antigen Gene Mutation Database

Human Gene Mutation Database (HGMD)

Human Genome Variation Society

Human Mutation. [A special issue of the journal.]

HGVSYS WayStation

HGVSYS WareHouse HGVbase

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How to Cite close
Cotton, RGH, and Horaitis, O(Jan 2006) Human Genome Variation Society. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005964]