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Standard development at the Human Variome Project.

Timothy D Smith1, Mauno Vihinen2,

  • 1Human Variome Project, Level 5, 234 Queensberry Street, The University of Melbourne, Victoria, 3010, Australia and Department of Experimental Medical Science, BMC D10, Lund University, SE-22184 Lund, Sweden.

Database : the Journal of Biological Databases and Curation
|March 31, 2015
PubMed
Summary
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The Human Variome Project (HVP) develops standards for sharing genetic variation data. These HVP standards and guidelines promote open data access and are increasingly adopted by the scientific community.

Area of Science:

  • Genomics
  • Bioinformatics
  • Data Science

Background:

  • The Human Variome Project (HVP) is a global initiative focused on the collection, curation, interpretation, and open sharing of human genetic variation data.
  • A critical aspect of HVP's work involves establishing standards and guidelines for data management and sharing.

Purpose of the Study:

  • To describe the HVP's standards development process.
  • To discuss currently accepted and emerging HVP standards, guidelines, and recommended systems.
  • To highlight the adoption status of these HVP standards within the scientific community.

Main Methods:

  • The study outlines the systematic process employed by the HVP Consortium for developing and evaluating standards and guidelines.
  • It details the criteria and procedures for assessing systems, processes, and tools that implement HVP Standards and Guidelines.

Related Experiment Videos

  • The Recommended System Status accreditation process is described as a mechanism to encourage adherence.

    • Main Results:

    • The HVP has established a robust framework for developing and implementing standards and guidelines for genetic variation data.
    • Several HVP Standards and Guidelines have been widely adopted, with ongoing community engagement for others.
    • An accreditation process, Recommended System Status, is in place to promote the adoption of these essential HVP standards.

    Conclusions:

    • The HVP's commitment to standardization is crucial for facilitating the global, open sharing of genetic variation information.
    • The ongoing development and adoption of HVP standards and guidelines are vital for advancing genomic research and its clinical applications.
    • The established processes ensure the quality and interoperability of data sharing infrastructure within the HVP network and the broader scientific community.