Abstract
SUMMARYMaximizing the personal, public, research, and clinical value of genomic information will require the reliable exchange of genetic variation data. We report here the Variation Representation Specification (VRS, pronounced “verse”), an extensible framework for the computable representation of variation that complements contemporary human-readable and flat file standards for genomic variation representation. VRS provides semantically precise representations of variation and leverages this design to enable federated identification of biomolecular variation with globally consistent and unique computed identifiers. The VRS framework includes a terminology and information model, machine-readable schema, data sharing conventions, and a reference implementation, each of which is intended to be broadly useful and freely available for community use. VRS was developed by a partnership among national information resource providers, public initiatives, and diagnostic testing laboratories under the auspices of the Global Alliance for Genomics and Health (GA4GH).
Highlights
Variation Representation Specification (VRS) was developed by a partnership among national information resource providers, public initiatives, and diagnostic testing laboratories under the auspices of the Global Alliance for Genomics and Health (GA4GH)
We summarize the key components enabling the precise and extensible representation of variation with VRS, including the underlying terminology, information model, schema, and conventions for computing globally consistent identifiers
VRS begins with precise computational definitions for biological concepts that are essential to representing biomolecular variation
Summary
Precision medicine and contemporary biomedical research are increasingly driven by large, coordinated genome-guided efforts.[1,2,3,4,5,6,7,8,9,10,11,12] The analysis of patient genomic data in the clinical setting has enabled tremendous advances in health care delivery through genome-guided diagnosis and clinical decision support.[13,14,15,16] numerous technical, financial, and legal obstacles impede the adoption of genomic science on a global scale.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
