ArticleHuman mutation2008
Recommendations for locus-specific databases and their curation.
Article in Human mutation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed.
- FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.Frontiers in immunology · 2020Article
- VIPdb, a genetic Variant Impact Predictor Database.Human mutation · 2019Article
- Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping.Orphanet journal of rare diseases · 2019Article
- Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.Molecular genetics and genomics : MGG · 2018Article
- Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.Human genomics · 2018Article
- Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.Oncotarget · 2018Article
- Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.The oncologist · 2017Article
- DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.BMC bioinformatics · 2017Article
- Human Variome Project Quality Assessment Criteria for Variation Databases.Human mutation · 2016Article
- The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.Pediatric nephrology (Berlin, Germany) · 2015Review
- Computational approaches to study the effects of small genomic variations.Journal of molecular modeling · 2015Review
- The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Human mutation · 2015Article
- DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2014Review
- HGV&TB: a comprehensive online resource on human genes and genetic variants associated with tuberculosis.Database : the journal of biological databases and curation · 2014Article
- UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.Database : the journal of biological databases and curation · 2013Article
- VarioML framework for comprehensive variation data representation and exchange.BMC bioinformatics · 2012Article
- Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.American journal of human genetics · 2012Article
- Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.The Clinical biochemist. Reviews · 2012Article
- Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.Nucleic acids research · 2012Article
- How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.Human mutation · 2010Article
Corrections and comments
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Authors and funding
23 authors.
Funding
Abstract
Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare and research. Expert curation is given by the curators of gene-specific mutation databases or locus-specific databases (LSDBs). While there are over 700 such databases, they vary in their content, completeness, time available for curation, and the expertise of the curator. Curation and LSDBs have been discussed, written about, and protocols have been provided for over 10 years, but there have been no formal recommendations for the ideal form of these entities. This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome.
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Registered trials
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