Switch phenotype data over to Phenopackets

populationgenomics / talos

Rare Disease variant reanalysis tool

MIT License

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Switch phenotype data over to Phenopackets #445

Closed MattWellie closed 1 week ago

MattWellie commented 2 weeks ago

The current one-file input with an extended pedigree format is... fine. It's simple to use, but it's a novel file format.

We should switch over to phenopackets, a GA4GH schema for providing phenotypic data for RD participants... perfect for this use case, and much more defensible to build against

MattWellie commented 1 week ago

Also requires a converter from the extended PED to a regular PED and phenopackets file for anyone who already drank my kool-aid