phenopackets / phenopacket-tools

An app and library for building, conversion, and validation of GA4GH Phenopackets.
http://phenopackets.org/phenopacket-tools/stable/
GNU General Public License v3.0
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Implement ancestry validation of HPO terms. #105

Closed ielis closed 1 year ago

ielis commented 1 year ago

Ensure phenopacket does not contain both an HPO term and an ancestor.

A phenopacket should not contain a feature and its ancestor. This applies to both observed and excluded phenotypic features. In case of observed features, the most specific feature should be retained. In contrary, the least specific (broadest) feature should be retained for the excluded phenotypic features.

As an exception, an observed ancestor of an excluded feature can be included (e.g. Abnormality of finger but not Arachnodactyly).