The Human Variome Project Solution Blueprint is a constantly updated guidance document that provides practical advice on how to establish the technical and administrative infrastructure for gene/disease specific databases and HVP Country Nodes. It draws together information from the published literature and the experiences of HVP Data Provider Members with Normative Documents produced by the Human Variome Project.
The Human Variome Project Consortium supports the work of its individual members by developing and publishing Standards and Guidelines for the free and open collection, curation, interpretation and sharing of genetic variation data. These standards and guidelines are produced by HVP Working Groups in a deliberative and consultative fashion, following the Human Variome Project’s Standards Development Process.
The Human Variome Project produces two categories of recommendations: HVP Standards and HVP Guidelines. HVP Standards are those systems, procedures and technologies that the Human Variome Project Consortium has determined should be used by the community. These carry more weight than the less prescriptive HVP Guidelines, which cover those systems, procedures and technologies that the Human Variome Project Consortium has determined would be beneficial for the community to adopt.
HVP Standards and Guidelines are central to supporting the work of the Human Variome Project Consortium and cover a wide range of fields and disciplines, from ethics to nomenclature, data transfer protocols to collection protocols from clinics. They can be thought of as both technical manuals and scientific documents, and while the impact of HVP Standards and Guidelines differ, they are both generated in a similar fashion.
- Gene/Disease Specific Variant Database Quality Parameters HVP/GL/001-01/EN
- Disclaimer Statements for Gene/Disease Specific Databases HVP/GL/002-01/EN
- Variant Terminology and Exon Numbering HVP/GL/003-01/EN