The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
- Authors
- Howard, Heather J; Horaitis, Ourania; Cotton, Richard G H; Vihinen, Mauno; Dalgleish, Raymond; Robinson, Peter; Brookes, Anthony J; Axton, Myles; Hoffmann, Robert; Tuffery-Giraud, Sylvie
- Year
- 2010
- Journal
- Human mutation
- PMID
- 20052753
- DOI
- 10.1002/humu.21175
The May 2009 Human Variome Project (HVP) Forum "Towards Establishing Standards" was a round table discussion attended by delegates from groups representing international efforts aimed at standardizing several aspects of the HVP: mutation nomenclature, description and annotation, clinical ontology, means to better characterize unclassified variants (UVs), and methods to capture mutations from diagnostic laboratories for broader distribution to the medical genetics research community. Methods for researchers to receive credit for their effort at mutation detection were also discussed.
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External
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|---|---|---|---|---|
| Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis. | Worthey EA | — | 2017 | → |
| CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. | Claustres M et al. | — | 2017 | → |
| Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge. | Kassahn KS et al. | — | 2014 | → |
| Variation ontology: annotator guide. | Vihinen M | — | 2014 | → |
| Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis. | Worthey EA | — | 2013 | → |
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| Taxonomizing, sizing, and overcoming the incidentalome. | Kohane IS et al. | — | 2012 | → |
| SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study. | Saccone SF et al. | — | 2010 | → |