Literature DB >> 21990126

Curating gene variant databases (LSDBs): toward a universal standard.

Jacopo Celli1, Raymond Dalgleish, Mauno Vihinen, Peter E M Taschner, Johan T den Dunnen.   

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.
© 2011 Wiley Periodicals, Inc.

Mesh:

Year:  2011        PMID: 21990126     DOI: 10.1002/humu.21626

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  23 in total

1.  Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.

Authors:  John-Paul Plazzer; Johan T den Dunnen; Timothy Smith; Finlay Macrae; Richard G Cotton
Journal:  Clin Biochem Rev       Date:  2012-02

2.  Human Variome Project Quality Assessment Criteria for Variation Databases.

Authors:  Mauno Vihinen; John M Hancock; Donna R Maglott; Melissa J Landrum; Gerard C P Schaafsma; Peter Taschner
Journal:  Hum Mutat       Date:  2016-03-21       Impact factor: 4.878

3.  Annotating DNA variants is the next major goal for human genetics.

Authors:  Garry R Cutting
Journal:  Am J Hum Genet       Date:  2014-01-02       Impact factor: 11.025

Review 4.  The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Authors:  Judy Savige; Raymond Dalgleish; Richard Gh Cotton; Johan T den Dunnen; Finlay Macrae; Sue Povey
Journal:  Pediatr Nephrol       Date:  2014-11-11       Impact factor: 3.714

5.  PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.

Authors:  Abhishek Niroula; Mauno Vihinen
Journal:  Hum Mutat       Date:  2017-05-02       Impact factor: 4.878

Review 6.  DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Authors:  Ganesh J Swaminathan; Eugene Bragin; Eleni A Chatzimichali; Manuel Corpas; A Paul Bevan; Caroline F Wright; Nigel P Carter; Matthew E Hurles; Helen V Firth
Journal:  Hum Mol Genet       Date:  2012-09-08       Impact factor: 6.150

7.  Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Authors:  Jorge Oliveira; Márcia E Oliveira; Wolfram Kress; Ricardo Taipa; Manuel Melo Pires; Pascale Hilbert; Peter Baxter; Manuela Santos; Henk Buermans; Johan T den Dunnen; Rosário Santos
Journal:  Eur J Hum Genet       Date:  2012-09-12       Impact factor: 4.246

8.  VarioML framework for comprehensive variation data representation and exchange.

Authors:  Myles Byrne; Ivo Fac Fokkema; Owen Lancaster; Tomasz Adamusiak; Anni Ahonen-Bishopp; David Atlan; Christophe Béroud; Michael Cornell; Raymond Dalgleish; Andrew Devereau; George P Patrinos; Morris A Swertz; Peter Em Taschner; Gudmundur A Thorisson; Mauno Vihinen; Anthony J Brookes; Juha Muilu
Journal:  BMC Bioinformatics       Date:  2012-10-03       Impact factor: 3.169

9.  MitoLSDB: a comprehensive resource to study genotype to phenotype correlations in human mitochondrial DNA variations.

Authors:  Shamnamole K; Saakshi Jalali; Vinod Scaria; Anshu Bhardwaj
Journal:  PLoS One       Date:  2013-04-09       Impact factor: 3.240

10.  Annotating the biomedical literature for the human variome.

Authors:  Karin Verspoor; Antonio Jimeno Yepes; Lawrence Cavedon; Tara McIntosh; Asha Herten-Crabb; Zoë Thomas; John-Paul Plazzer
Journal:  Database (Oxford)       Date:  2013-04-12       Impact factor: 3.451

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