Curating gene variant databases (LSDBs): toward a universal standard.
(2012) In Human Mutation 33(2). p.291-297- Abstract
- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3634605
- author
- Celli, Jacopo ; Dalgleish, Raymond ; Vihinen, Mauno LU ; Taschner, Peter E M and den Dunnen, Johan T
- publishing date
- 2012
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Databases, Computational Biology: methods, Computational Biology: standards, Genetic: standards
- in
- Human Mutation
- volume
- 33
- issue
- 2
- pages
- 291 - 297
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:21990126
- scopus:84857772267
- ISSN
- 1059-7794
- DOI
- 10.1002/humu.21626
- language
- English
- LU publication?
- no
- id
- 0fe01742-8ce8-4b1e-9f46-86d12c491ce1 (old id 3634605)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/21990126?dopt=Abstract
- date added to LUP
- 2016-04-04 07:55:48
- date last changed
- 2022-03-15 07:35:59
@article{0fe01742-8ce8-4b1e-9f46-86d12c491ce1, abstract = {{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.}}, author = {{Celli, Jacopo and Dalgleish, Raymond and Vihinen, Mauno and Taschner, Peter E M and den Dunnen, Johan T}}, issn = {{1059-7794}}, keywords = {{Databases; Computational Biology: methods; Computational Biology: standards; Genetic: standards}}, language = {{eng}}, number = {{2}}, pages = {{291--297}}, publisher = {{John Wiley & Sons Inc.}}, series = {{Human Mutation}}, title = {{Curating gene variant databases (LSDBs): toward a universal standard.}}, url = {{http://dx.doi.org/10.1002/humu.21626}}, doi = {{10.1002/humu.21626}}, volume = {{33}}, year = {{2012}}, }