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Guidelines and recommendations for content, structure, and deployment of mutation databases

  1. C.R. Scriver1,*,
  2. P.M. Nowacki1,
  3. H. Lehväslaiho2

Article first published online: 20 MAY 1999

DOI: 10.1002/(SICI)1098-1004(1999)13:5<344::AID-HUMU2>3.0.CO;2-U

Issue

Human Mutation

Human Mutation

Volume 13, Issue 5, pages 344–350, 1999

Additional Information

How to Cite

Scriver, C., Nowacki, P. and Lehväslaiho, H. (1999), Guidelines and recommendations for content, structure, and deployment of mutation databases. Human Mutation, 13: 344–350. doi: 10.1002/(SICI)1098-1004(1999)13:5<344::AID-HUMU2>3.0.CO;2-U

Author Information

  1. 1

    DeBelle Laboratory, McGill University, Montreal Children's Hospital Research Institute, Montreal, Canada

  2. 2

    EMBL Outstation, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK

*DeBelle Laboratory, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper St. Montreal, QC, H3H 1P3, Canada; Fax: 514 934 4329

Publication History

  1. Issue published online: 20 MAY 1999
  2. Article first published online: 20 MAY 1999
  3. Manuscript Accepted: 26 JAN 1999
  4. Manuscript Received: 18 NOV 1998

Funded by

  • HUGO
  • The March of Dimes (U.S.A.)
  • Canadian Genetic Diseases Network (Networks of Centers of Excellence)
  • Medical Research Council of Canada
  • Réseau de Médecine Génétique Appliquée (Fonds de recheche en santé du Quebec)

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Keywords:

  • database;
  • gene;
  • genome;
  • informatics;
  • mutation

Abstract

These Guidelines recognize the need for annotated online mutation databases documenting allelic variation (both pathogenic and phenotype modifying, and also neutral polymorphic); the databases will be both generalized (genomic) and specialized (locus specific), and a seamless integration of the two types is intended. Each requires a Document (its “biography”). Different mutation databases will have different content and structure, but a minimum core of content in a shared syntax is a necessity; the core includes: (1) a unique identifier of the allele; (2) the source /report of the data; (3) context of the allele; and (4) the allele itself (the description). The allele description should be validated. There is no single correct way to design a mutation database. The uses to which databases are put dictate the design. Software and deployment together recognize the different needs of specialized and generalized databases, while making them mutually compatible through shared content and the appropriate search facilities. A set of eight Recommendations completes these Guidelines for Content, Design, and Deployment of Mutation Databases. Hum Mutat 13:344–350, 1999. © 1999 Wiley-Liss, Inc.

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