monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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Handle phenopackets with unparsable data #120

Closed ielis closed 5 months ago

ielis commented 6 months ago

We need a strategy for handling phenopackets that do not include minimal required data for genotype-phenotype correlation analysis.

For instance, a phenopacket PMID_36446582_Novara2017_P2 does not include CNV coordinates, and ends up having no parsable variant.

Other fallible actions include unknown HPO term as of the used ontology.

Requirements

Suggestion

lnrekerle commented 6 months ago

This was actually part of my "update notebooks" PR that I just pushed. Forgot to add this task as one that would close with it. This is complete.