Toward a Human Variome Project

Abstract

Human MutationVolume 26, Issue 6 p. 499-499 EditorialFree Access Toward a Human Variome Project Richard G.H. Cotton, Corresponding Author Richard G.H. Cotton [email protected] Genomic Disorders Research Centre, Melbourne, Victoria, AustraliaGenomic Disorders Research Centre, 7th Floor Daly Wing, St. Vincent's Hospital Melbourne, 35 Victoria Pde, Fitzroy VIC 3065, AustraliaSearch for more papers by this authorHaig H. Kazazian Jr., Haig H. Kazazian Jr. Department of Genetics, University of Pennsylvania, Philadelphia, PennsylvaniaSearch for more papers by this author Richard G.H. Cotton, Corresponding Author Richard G.H. Cotton [email protected] Genomic Disorders Research Centre, Melbourne, Victoria, AustraliaGenomic Disorders Research Centre, 7th Floor Daly Wing, St. Vincent's Hospital Melbourne, 35 Victoria Pde, Fitzroy VIC 3065, AustraliaSearch for more papers by this authorHaig H. Kazazian Jr., Haig H. Kazazian Jr. Department of Genetics, University of Pennsylvania, Philadelphia, PennsylvaniaSearch for more papers by this author First published: 24 October 2005 https://doi.org/10.1002/humu.20272Citations: 5AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. REFERENCES Antonarakis SE, the Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11: 1– 3. Claustres M, Horaitis O, Vanevski M, Cotton RGH. 2002. Time for a unified system of mutation description and reporting: a review of locus specific mutation databases. Genome Res 12: 680– 688. Cotton RGH, Horaitis O. 2000. Quality control in the discovery, reporting, and recording of genomic variation. Hum Mutat 15: 16– 21. Cotton RGH. 2002. The Human Genome Project and genome variation. Intern Med J 32: 285– 288. Czeizel A, Sankaranarayanan K. 1984. The load of genetic and partially genetic disorders in man. Mutat Res 128: 73– 103. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15: 7– 12. Fokkema IFAC, den Dunnen JT, Taschner PEM. 2005. LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-Box” approach. Hum Mutat 26: 63– 68. Horaitis O, Cotton RGH. 2004. The challenge of documenting mutation across the genome: the Human Genome Variation Society approach. Hum Mutat 23: 447– 452. Scriver CR, Nowacki PM, Lehväslaiho H. 1999. Guidelines and recommendations for content, structure and deployment of mutation databases. Hum Mutat 13: 344– 350. Scriver CR, Nowacki PM, Lehväslaiho H. 2000. Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress. Hum Mutat 15: 13– 15. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. 2003. Human Gene Mutation Database (HGMD®): 2003 update. Hum Mutat 21: 577– 581. Citing Literature Volume26, Issue6December 2005Pages 499-499 ReferencesRelatedInformation