Details
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Change Request
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Resolution: Persuasive
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Medium
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Genomics Reporting (FHIR)
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1.1.0 [deprecated]
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Clinical Genomics
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Find Subject Variants
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Operations
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Bob Dolin / Arthur Herman : 14 - 0 - 0
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Enhancement
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Compatible, substantive
Description
Merge revised FHIR Genomics Operations from Operations branch (http://build.fhir.org/ig/HL7/genomics-reporting/branches/operations/operations.html) to Build site (http://build.fhir.org/ig/HL7/genomics-reporting/operations.html)
High level summary of changes:
- find-subject-variants operation has been enhanced (mainly to accept >1 region as an input parameter)
- New operations have been added:
Operation Description find-subject-variants Determine if simple variants are present that overlap range(s). find-subject-specific-variants Determine if specified simple variants are present. find-subject-structural-intersecting-variants Determine if structural variants are present that overlap range(s). find-subject-structural-subsuming-variants Determine if structural variants are present that fully subsume a range. find-subject-haplotypes Retrieve haplotypes/genotypes for specified genes. find-subject-specific-haplotypes See if specified haplotypes/genotypes are present. find-subject-tx-implications Retrieves genetic therapeutic implications for variants/haplotypes/genotypes. find-subject-dx-implications Retrieves genetic diagnostic implications for variants. find-population-specific-variants Retrieve count or list of patients having specified variants. find-population-structural-intersecting-variants Retrieve count or list of patients having structural intersecting variants in specified regions. find-population-structural-subsuming-variants Retrieve count or list of patients having structural subsuming variants in specified regions. find-population-specific-haplotypes Retrieve count or list of patients having specified genotypes/haplotypes. find-population-tx-implications Retrieve count or list of patients having therapeutic implications. find-population-dx-implications Retrieve count or list of patients having diagnostic implications. find-study-metadata Retrieve metadata about sequencing studies performed on a subject.
- Extensive implementation guidance and examples have been added.
Ideal timing for merge is after STU2 is published, and in time for use for May 2022 Connectathon.
From a FHIR Maturity Level perspective, the content upon initial merge should be considered 'Draft (0)'.
FHIR-36042 is a parallel proposal for migrating a reference implementation over to HL7.org.
