Publication: The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
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Wagner, A. H., Babb, L., Alterovitz, G., Baudis, M., & et al. (2021). The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. Cell Genomics, 1, 100027. https://doi.org/10.1016/j.xgen.2021.100027
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Maximizing 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 bio
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Wagner, A. H., Babb, L., Alterovitz, G., Baudis, M., & et al. (2021). The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. Cell Genomics, 1, 100027. https://doi.org/10.1016/j.xgen.2021.100027