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Human Variome Project Quality Assessment Criteria for Variation Databases.

Vihinen, Mauno LU ; Hancock, John M; Maglott, Donna R; Landrum, Melissa J; Schaafsma, Gerard LU and Taschner, Peter (2016) In Human Mutation 37(6). p.549-549
Abstract
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... (More)
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. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
in
Human Mutation
volume
37
issue
6
pages
558 pages
publisher
John Wiley & Sons
external identifiers
  • pmid:26919176
  • scopus:84961683168
  • wos:000375157300008
ISSN
1059-7794
DOI
10.1002/humu.22976
language
English
LU publication?
yes
id
3cd1ad61-7994-4d4e-a0a3-114a17ad4171 (old id 8821528)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26919176?dopt=Abstract
date added to LUP
2016-03-03 13:21:32
date last changed
2017-10-01 04:58:29
@article{3cd1ad61-7994-4d4e-a0a3-114a17ad4171,
  abstract     = {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.},
  author       = {Vihinen, Mauno and Hancock, John M and Maglott, Donna R and Landrum, Melissa J and Schaafsma, Gerard and Taschner, Peter},
  issn         = {1059-7794},
  language     = {eng},
  month        = {02},
  number       = {6},
  pages        = {549--549},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {Human Variome Project Quality Assessment Criteria for Variation Databases.},
  url          = {http://dx.doi.org/10.1002/humu.22976},
  volume       = {37},
  year         = {2016},
}