Skip to content

support for genetics and pharmacogenetics #6

@twamarc

Description

@twamarc

Picked from Mark Woon:
https://lists.w3.org/Archives/Public/public-schemed/2015Jun/0004.html

Hi,
I'd would love to see support for genetics and pharmacogenetics in the
healthcare schema.
For example, there is no way to even provide metadata for genetics-based
dosing guidelines in MedicalGuideline right now. An example of such a
guideline can be found here: https://www.pharmgkb.org/guideline/PA166104997
I would like to propose the addition of these types:

  • MedicalEntity
    • GeneticSequence
      • Gene
      • Genome
      • Variant
      • VariantCollection
        • Diplotype
        • Haplotype
        • Genotype
          The VariantCollection level is not really necessary, but all it's children
          contains a collection of Variants.
          I can go into more detail on exactly what I think these types should
          be/contain, but wanted to make sure there's consensus on the types that
          should be added.
          Thanks,
          -Mark woon

Metadata

Metadata

Assignees

No one assigned

    Projects

    No projects

    Milestone

    No milestone

    Relationships

    None yet

    Development

    No branches or pull requests

    Issue actions