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  1. FHIR Specification Feedback
  2. FHIR-32100

Sequence Phase Relationship should have a clearer description on the main Resource page

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    • Icon: Change Request Change Request
    • Resolution: Persuasive
    • Icon: Medium Medium
    • Genomics Reporting (FHIR)
    • 1.0.0
    • Clinical Genomics
    • Sequence Phase Relationship
    • Hide

      Add this description to the Sequence Phase Relationship page as part of an introduction:

      A sequence phase relationship asserts a specific type of relationship between two variants or haplotypes.

      Humans inherit a copy of each autosome from mother and father - each cell contains, for instance, a maternally-derived and a paternally-derived chromosome 7. We refer to the two chromosomes as 'homologous', and we can refer to each of the chromosomes as 'homologs'.

      Where a person has two variants (or haplotypes) on chromosome 7, those variants can both be on the same homolog (i.e. both variants are on the maternally-derived chromosome), or those variants can be on different homologs (i.e. one variant is on the maternally-derived chromosome and one variant is on the paternally-derived chromosome).

      Where the two variants are on the same homolog, the variants are said to be in a 'Cis' relationship. Where the two variants are on different homologs, the variants are said to be in a 'Trans' relationship.

      Show
      Add this description to the Sequence Phase Relationship page as part of an introduction: A sequence phase relationship asserts a specific type of relationship between two variants or haplotypes. Humans inherit a copy of each autosome from mother and father - each cell contains, for instance, a maternally-derived and a paternally-derived chromosome 7. We refer to the two chromosomes as 'homologous', and we can refer to each of the chromosomes as 'homologs'. Where a person has two variants (or haplotypes) on chromosome 7, those variants can both be on the same homolog (i.e. both variants are on the maternally-derived chromosome), or those variants can be on different homologs (i.e. one variant is on the maternally-derived chromosome and one variant is on the paternally-derived chromosome). Where the two variants are on the same homolog, the variants are said to be in a 'Cis' relationship. Where the two variants are on different homologs, the variants are said to be in a 'Trans' relationship.
    • Arthur Herman / Bob Dolin : 10 - 0 - 2
    • Enhancement
    • Non-substantive

    Description

      Sequence Phase Relationship should have a description directly on the resource for what is expected to be represented in it. There should be some kind of indication that the answer list on the associated LOINC code is not exactly the same as what is represented within this FHIR resource, so it's clearer to those who aren't deeply familiar with FHIR what should/can be represented here, vs Variant Inheritance. 

      A blurb comparing Sequence Phase Relationship to Variant Inheritance might be valuable here for these reasons.

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            rkutner Rachel Kutner (Inactive)
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              Created:
              Updated:
              Resolved: