ArticleHuman mutation2010
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
18 citing papers in PubMed.
- Ethical Impact Assessment of Sharing Nanosafety Data.Open research Europe · 2024Article
- Three decades of the Human Genome Organization.American journal of medical genetics. Part A · 2021Article
- CoVaCS: a consensus variant calling system.BMC genomics · 2018Article
- Human Variome Project Quality Assessment Criteria for Variation Databases.Human mutation · 2016Article
- Variation ontology: annotator guide.Journal of biomedical semantics · 2014Article
- Variation Ontology for annotation of variation effects and mechanisms.Genome research · 2014Article
- Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.Nucleic acids research · 2014Article
- Implementing the brazilian database on orofacial clefts.Plastic surgery international · 2013Article
- Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing.Journal of community genetics · 2013Article
- The curation of genetic variants: difficulties and possible solutions.Genomics, proteomics & bioinformatics · 2012Review
- VarioML framework for comprehensive variation data representation and exchange.BMC bioinformatics · 2012Article
- How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis.BMC genomics · 2012Article
- Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA).Current pharmacogenomics and personalized medicine · 2011Article
- Mutation (variation) databases and registries: a rationale for coordination of efforts.Nature reviews. Genetics · 2011Article
- Exome sequencing as a tool for Mendelian disease gene discovery.Nature reviews. Genetics · 2011Review
- Deep sequencing of patient genomes for disease diagnosis: when will it become routine?Science translational medicine · 2011Article
- Nutrigenetics, nutrigenomics, and selenium.Frontiers in genetics · 2011Article
- Human polymorphisms as clinical predictors in leprosy.Journal of tropical medicine · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors.
Funding
Abstract
The third Human Variome Project (HVP) Meeting "Integration and Implementation" was held under UNESCO Patronage in Paris, France, at the UNESCO Headquarters May 10-14, 2010. The major aims of the HVP are the collection, curation, and distribution of all human genetic variation affecting health. The HVP has drawn together disparate groups, by country, gene of interest, and expertise, who are working for the common good with the shared goal of pushing the boundaries of the human variome and collaborating to avoid unnecessary duplication. The meeting addressed the 12 key areas that form the current framework of HVP activities: Ethics; Nomenclature and Standards; Publication, Credit and Incentives; Data Collection from Clinics; Overall Data Integration and Access-Peripheral Systems/Software; Data Collection from Laboratories; Assessment of Pathogenicity; Country Specific Collection; Translation to Healthcare and Personalized Medicine; Data Transfer, Databasing, and Curation; Overall Data Integration and Access-Central Systems; and Funding Mechanisms and Sustainability. In addition, three societies that support the goals and the mission of HVP also held their own Workshops with the view to advance disease-specific variation data collection and utilization: the International Society for Gastrointestinal Hereditary Tumours, the Micronutrient Genomics Project, and the Neurogenetics Consortium.
Indexed as
Identifiers
What OpenQuestion holds
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.