GuidelineHuman mutation2010
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).
Guideline in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed.
- Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2019Article
- Public variant databases: liability?Genetics in medicine : official journal of the American College of Medical Genetics · 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
- Medical genomics: The intricate path from genetic variant identification to clinical interpretation.Applied & translational genomics · 2014Review
- DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.Pediatric nephrology (Berlin, Germany) · 2014Review
- Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.BMC medical informatics and decision making · 2012Article
- Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.The Clinical biochemist. Reviews · 2012Article
- Clarity and claims in variation/mutation databasing.Nature biotechnology · 2011Article
- Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.Human mutation · 2011Article
- How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.Human mutation · 2010Article
- Connecting the Human Variome Project to nutrigenomics.Genes & nutrition · 2010Article
- General considerations for integrating pharmacogenomics into mainstream medical practice.Human genomics · 2010Article
- ETHNOS : A versatile electronic tool for the development and curation of national genetic databases.Human genomics · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
More than 1,000 Web-based locus-specific variation databases (LSDBs) are listed on the Website of the Human Genetic Variation Society (HGVS). These individual efforts, which often relate phenotype to genotype, are a valuable source of information for clinicians, patients, and their families, as well as for basic research. The initiators of the Human Variome Project recently recognized that having access to some of the immense resources of unpublished information already present in diagnostic laboratories would provide critical data to help manage genetic disorders. However, there are significant ethical issues involved in sharing these data worldwide. An international working group presents second-generation guidelines addressing ethical issues relating to the curation of human LSDBs that provide information via a Web-based interface. It is intended that these should help current and future curators and may also inform the future decisions of ethics committees and legislators. These guidelines have been reviewed by the Ethics Committee of the Human Genome Organization (HUGO).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.