ArticleBioinformatics (Oxford, England)2011
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations.
Article in Bioinformatics (Oxford, England), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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.
The trial behind it
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
9 citing papers in PubMed.
- Genome-wide sequencing technologies: A primer for paediatricians.Paediatrics & child health · 2018Article
- Mitigating false-positive associations in rare disease gene discovery.Human mutation · 2015Article
- Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.Human mutation · 2013Article
- Annotating the biomedical literature for the human variome.Database : the journal of biological databases and curation · 2013Article
- Management of incidental findings in clinical genomic sequencing.Current protocols in human genetics · 2013Article
- Taxonomizing, sizing, and overcoming the incidentalome.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility.Genome research · 2012Article
- Article
- Exome sequencing as a tool for Mendelian disease gene discovery.Nature reviews. Genetics · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
summaryAccurate annotations of genomic variants are necessary to achieve full-genome clinical interpretations that are scientifically sound and medically relevant. Many disease associations, especially those reported before the completion of the HGP, are limited in applicability because of potential inconsistencies with our current standards for genomic coordinates, nomenclature and gene structure. In an effort to validate and link variants from the medical genetics literature to an unambiguous reference for each variant, we developed a software pipeline and reviewed 68 641 single amino acid mutations from Online Mendelian Inheritance in Man (OMIM), Human Gene Mutation Database (HGMD) and dbSNP. The frequency of unresolved mutation annotations varied widely among the databases, ranging from 4 to 23%. A taxonomy of primary causes for unresolved mutations was produced. AVAILABILITY: This program is freely available from the web site (http://safegene.hms.harvard.edu/aa2nt/).
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Registered trials
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