The Human Variome Project Consortium both supports and directs the work of its individual members by developing and publishing standards and guidelines for the collection 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 Activity Process.

Standards and Guidelines

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.

A document has been generated both as a guide for those collecting and distributing data and for those developing policy. Items should include those generated by HGVS/HVP collaborators as well as those generated by groups of individual Societies and Standards bodies in all relevant fields worldwide. Individuals can add such documents and papers with recommendations at any time by contacting R. Horaitis ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it ). The document is available here:

Process

1. A member of the Human Variome Project Consortium submits an Activity Proposal to the relevant Advisory Council via the Coordinating Office. This proposal should outline:
   1. the need the proposed activity is attempting to address;
   2. the scope of the proposed activity;
   3. short and long term objectives;
   4. a plan of action for addressing the activity;
   5. any resources required;
   6. the expected deliverables of the project; and
   7. the Working Group the activity would fall under, if one exists.
2. The Advisory Council invites the Coordinating Office to comment on the Activity Proposal, with a particular view to identifying potential collaborators and the capacity of the Human Variome Project to help secure the required resources.
3. The Advisory Council determines whether or not to accept the proposal.
4. Once accepted, the Advisory Council either:
   1. charters a new HVP Working Group to oversee the Activity; or
   2. modifies the charter of an existing HVP Working Group.
5. The HVP Working Group produces a working draft of an HVP Standard or Guideline.
6. The Advisory Council calls for comments on the working draft from the community.
   1. Steps 4 and 5 continue in an iterative fashion until the HVP Working Group submits the working draft as a Draft HVP Standard or Guideline to the appropriate Advisory Council.
7. The Advisory Council recommends the Draft HVP Standard or Guideline to the Scientific Advisory Committee for publication, or refers it back to the Working Group for further work.
8. The Scientific Advisory Committee signs off on the Draft HVP Standard or Guideline and publishes it via the Human Project Variome website.

Systems and Infrastructure

The capacity exists for the Human Variome Project Consortium to recommend the use of specific systems and infrastructure without publishing such a recommendation as an HVP Standard or Guideline. The developers of such systems can apply to the appropriate Advisory Council through the Coordinating Office for a Warrant of Recommendation, and upon the completion of a review by the Advisory Council, the Scientific Advisory Committee shall decide if such a warrant is to be issued.

The Scientific Advisory Committee is the arbiter of the conditions that systems must meet in order to qualify for a Warrant of Recommendation. However, in broad terms, systems must be: free to the academic community; comply with all HVP Standards and Guidelines; be open-source where applicable; and be compatible with similar systems already recommended by the Human Variome Project Consortium.

Affiliated Initiatives

The Scientific Advisory Committee, acting upon the recommendation of one or both of the Advisory Councils, may decide to issue a Warrant of Affiliation to specific relevant projects. Projects may be offered affiliated status in recognition of their impact and relevance to the overall vision and objectives of the Human Variome Project. Affiliated Projects receive no special treatment or favour from the Consortium above the publishing of their status on the Human Variome Project website.

Partner Initiatives

Country consortiums that have successfully applied to become an HVP Country Node and gene/disease specific databases recognised by the Human Variome Project shall be issued a Warrant of Partnership by the Scientific Advisory Committee.

Consortium Policies

The Coordinating Office of the Human Variome Project shall from time to time prepare documents outlining the policies and procedures of the Human Variome Project Consortium. These documents will be prepared with the advice and consent of the Scientific Advisory Committee and Councils. Upon formal adoption by the Scientific Advisory Committee, they shall become official policy of the Human Variome Project.

Recommendations

From time to time, the Human Variome Project Consortium will publish outcomes from its various meetings under the general heading of Recommendations.