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Curating gene variant databases (LSDBs): toward a universal standard.
Celli, Jacopo; Dalgleish, Raymond; Vihinen, Mauno; Taschner, Peter E M; den Dunnen, Johan T.
Afiliación
  • Celli J; Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Hum Mutat ; 33(2): 291-7, 2012 Feb.
Article en En | MEDLINE | ID: mdl-21990126
Gene variant databases or Locus-Specific DataBases (LSDBs) are used to collect and display information on sequence variants on a gene-by-gene basis. Their most frequent use is in relation to DNA-based diagnostics, giving clinicians and scientists easy access to an up-to-date overview of all gene variants identified worldwide and whether they influence the function of the gene ("pathogenic or not"). While literature on gene variant databases is extensive, little has been published on the process of database curation itself. Based on our extensive experience as LSDB curators and our contributions to database curation courses, we discuss the subject of database curation. We describe the tasks involved, the steps to take, and the issues that might occur. Our overview is a first step toward establishing overall guidelines for database curation and ultimately covers one aspect of establishing quality-assured gene variant databases.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Bases de Datos Genéticas / Genes Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2012 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Bases de Datos Genéticas / Genes Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2012 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos