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ga4gh-beacon / beacon-v2-Models

Models that leverage the Beacon Framework v2
Apache License 2.0
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phenotypicEffect and clinicalInterpretation #45

Closed rahelp closed 3 years ago

rahelp commented 3 years ago

They are both arrays that are under the same object. What is the use case for that? Is this to represent pathogenicity and diseaseIds? in genomicVariation default schema

jrambla commented 3 years ago

The genomicVariation schema tries to group aspects that could be similar, only "privileging" the identification aspects. In particular variantLevelDataincludes "subjective" relationships like effects on the phenotype (e.g. height, blood pressure) and in the diseases (e.g. hypercholesterolemia or arthritis). According to the feedback we had, it seemed clearer to separate both, although they eventually use the same schema.

mbaudis commented 3 years ago

@jrambla I'm a big "lumper" here but I guess we can go with this, if it is clearly intentional & vetted.