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  1. FHIR Specification Feedback
  2. FHIR-32703

HGVS support

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    • Genomics Reporting (FHIR)
    • 1.0.0
    • Clinical Genomics
    • (many)
    • 1.4
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      q: Will all HGVS versions/assemblies be supported? Similarly, what are nomenclature requirements for HGVS names (eg, NC_000010.10:g.96540410G>A vs. NC_000010.10:g.96540410G:A)?

      The FHIR core specification does reference HGVS as a code system, and the IG defines a ValueSet which means HGVS expressions are expected to follow the rules of the Code System. However, the IG does not enforce validation or even speak to how systems should validate HGVS at this time. So today, any validation would be up to the implementer.

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      q:  Will all HGVS versions/assemblies be supported? Similarly, what are nomenclature requirements for HGVS names (eg, NC_000010.10:g.96540410G>A vs. NC_000010.10:g.96540410G:A)? The FHIR core specification does reference  HGVS  as a code system, and the IG defines a  ValueSet  which means HGVS expressions are expected to follow the rules of the Code System. However, the IG does not enforce validation or even speak to how systems should validate HGVS at this time. So today, any validation would be up to the implementer.

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      Will all HGVS versions/assemblies be supported? Similarly, what are nomenclature requirements for HGVS names (eg, NC_000010.10:g.96540410G>A vs. NC_000010.10:g.96540410G:A)?

      (Comment 23 - imported by: Kevin Power)

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            Unassigned Unassigned
            hstrasbe Howard Strasberg
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