The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".
Författare
Summary, in English
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.
Publiceringsår
2010
Språk
Engelska
Sidor
366-367
Publikation/Tidskrift/Serie
Human Mutation
Volym
31
Issue
3
Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
John Wiley & Sons Inc.
Ämne
- Medical Genetics
Nyckelord
- Genomics: standards
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 1059-7794