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Human Variome Project Quality Assessment Criteria for Variation Databases.

På svenska

Author

  • Mauno Vihinen
  • John M Hancock
  • Donna R Maglott
  • Melissa J Landrum
  • Gerard Schaafsma
  • Peter Taschner

Summary, in English

Numerous databases containing information about DNA, RNA and protein variations are available. Gene-specific variant databases (locus specific variation databases, LSDBs) are typically curated and maintained for single genes or groups of genes for a certain disease(s). These databases are widely considered as the most reliable information source for a particular gene/protein/disease, but it should also be made clear they may have widely varying contents, infrastructure, and quality. Quality is very important to evaluate because these databases may affect health decision-making, research and clinical practice. The Human Variome Project (HVP) established a Working Group for Variant Database Quality Assessment. The basic principle was to develop a simple system that nevertheless provides a good overview of the quality of a database. The HVP quality evaluation criteria that resulted are divided into four main components: data quality, technical quality, accessibility, and timeliness. This report elaborates on the developed quality criteria and how implementation of the quality scheme can be achieved. Examples are provided for the current status of the quality items in two different databases, BTKbase, an LSDB, and ClinVar, a central archive of submissions about variants and their clinical significance. This article is protected by copyright. All rights reserved.

Publishing year

2016-02-26

Language

English

Pages

549-549

Publication/Series

Human Mutation

Volume

37

Issue

6

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Bioinformatics and Systems Biology

Status

Published

ISBN/ISSN/Other

  • ISSN: 1059-7794