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The HUGO Mutation Database Initiative

1998; American Association for the Advancement of Science; Volume: 279; Issue: 5347 Linguagem: Inglês

10.1126/science.279.5347.10c

1095-9203

Richard G.H. Cotton, V.A. McKusick, C. R. Scriver,

Genetics, Bioinformatics, and Biomedical Research

In 1994, an initiative began to form a community of those interested in genetic mutations and their documentation with a view to developing a considered, integrated, and systematic approach to the massive problem of mutation documentation. Its major aim is to have up-to-date lists of mutations of genes available by computer on the World Wide Web. Its history and progress as the “Mutation Database Initiative” can be seen on its Web site ([1][1]). There has been tacit agreement that the size and complexity of the problem is such that the initiative should go ahead with a system of locus-specific databases working with central databases. The nomenclature is nearly agreed on ([2][2]). It is proposed that the systematic name of a mutation be based on the nucleic acid change, and the common or trivial name on the amino acid change. The content of locus-specific databases is being discussed ([3][3]), and a method for searching dispersed databases has been proposed ([4][4]). Future themes to be addressed include quality control, recommended software, funding, publication, privacy, copyright, and collection of mutations. The initiative has been fortunate to obtain infrastructure support for meetings from the Human Genome Organization (HUGO) and, most recently, has been invited to become part of HUGO; hence the name “HUGO Mutation Database Initiative.” The March of Dimes has also supported meetings and most recently staff to help coordinate the initiative. Those having suggestions and those interested in assisting in the tasks of and joining the initiative should contact one of us. 1. [↵][5][ariel.ucs.unimelb.edu.au:80/~cotton/mut_database.htm][6]. 2. [↵][7][ariel.ucs.unimelb.edu.au:80/~cotton/antonara.htm][8]. 3. [↵][9][ariel.ucs.unimelb.edu.au:80/~cotton/scriver.htm][10]. 4. [↵][11][ariel.ucs.unimelb.edu.au:80/~cotton/etzold.htm][12]. [1]: #ref-1 [2]: #ref-2 [3]: #ref-3 [4]: #ref-4 [5]: #xref-ref-1-1 View reference 1 in text [6]: http://ariel.ucs.unimelb.edu.au:80/~cotton/mut_database.htm [7]: #xref-ref-2-1 View reference 2 in text [8]: http://ariel.ucs.unimelb.edu.au:80/~cotton/antonara.htm [9]: #xref-ref-3-1 View reference 3 in text [10]: http://ariel.ucs.unimelb.edu.au:80/~cotton/scriver.htm [11]: #xref-ref-4-1 View reference 4 in text [12]: http://ariel.ucs.unimelb.edu.au:80/~cotton/etzold.htm