8000 Hail support for GA4GH Variation Representation Specification (VRS) · Issue #14856 · hail-is/hail · GitHub
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Hail support for GA4GH Variation Representation Specification (VRS) #14856

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mhebrard opened this issue Apr 16, 2025 · 0 comments
Open

Hail support for GA4GH Variation Representation Specification (VRS) #14856

mhebrard opened this issue Apr 16, 2025 · 0 comments
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needs-triage A brand new issue that needs triaging. new-feature

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@mhebrard
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The Global Alliance for Genomics and Health (GA4GH) has developed the Variation Representation Specification (VRS), a framework designed to assign a unique, unambiguous identifier to each genetic variation. VRS has been adopted by major sequencing efforts, including gnomAD, to facilitate consistent variant representation across datasets. While the VRS team provides tools to annotate VCF files with VRS identifiers, applying these tools at scale remains technically challenging. Integrating VRS ID annotation as a built-in feature within Hail would be a valuable enhancement, enabling streamlined and scalable support for standardized variant representation.
@ehigham ehigham added new-feature needs-triage A brand new issue that needs triaging. labels Apr 16, 2025
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