Abstract

The Human Variome Project (HVP) is a world organization working towards facilitating the collection, curation, interpretation and free and open sharing of genetic variation information. A key component of HVP activities is the development of standards and guidelines. HVP Standards are systems, procedures and technologies that the HVP Consortium has determined must be used by HVP-affiliated data sharing infrastructure and should be used by the broader community. HVP guidelines are considered to be beneficial for HVP affiliated data sharing infrastructure and the broader community to adopt. The HVP also maintains a process for assessing systems, processes and tools that implement HVP Standards and Guidelines. Recommended System Status is an accreditation process designed to encourage the adoption of HVP Standards and Guidelines. Here, we describe the HVP standards development process and discuss the accepted standards, guidelines and recommended systems as well as those under acceptance. Certain HVP Standards and Guidelines are already widely adopted by the community and there are committed users for the others.

Highlights

  • The Human Variome Project (HVP) is a world organization working towards facilitating the collection, curation, interpretation and free and open sharing of genetic variation information

  • The Human Variome Project (HVP, http://www.human variomeproject.org/) is an international non-governmental organization that is working towards the integration of the collection, curation, interpretation and sharing of information on human genetic variation into routine clinical practice and research

  • In cases where the proposed Standard or Guideline pertains to both HVP Country Nodes and gene/disease-specific databases, the International Scientific Advisory Committee (ISAC) may elect to act as the Sponsoring Council

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Summary

Background

The Human Variome Project (HVP, http://www.human variomeproject.org/) is an international non-governmental organization that is working towards the integration of the collection, curation, interpretation and sharing of information on human genetic variation into routine clinical practice and research. HVP Standards are systems, procedures and technologies that the HVP Consortium has determined must be used by HVP affiliated data sharing infrastructures and should be used by the broader community. The development process is similar for both of them; see Figure 1 and the HVP Standards Development Process document (http:// short.variome.org/PD06-2011)

Organization of HVP
HVP standards development process
Proposal stage
Development stage
Consultation stage
Approval stage
Final approval
Current HVP standards and guidelines
Findings
Recommended systems
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