populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP

MIT License

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Adds type and trio True/False to family metadata #314

Open MattWellie opened 8 months ago

MattWellie commented 8 months ago

Fixes

Family metadata doesn't currently include an explicit count of family size, or a categorisation of the family type
Closes #310

Proposed Changes

Includes two attributes in the metadata for each participant:
- family_size: count of number of participants in the Pedigree for this family
- trio_present: True/False, True if the family contains a participant/mother/father trio
Thinking here is that a Trio being present/absent is a more useful separation than duo/trio/quad/etc.