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monarch-initiative
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genophenocorr
Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
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Extract disease
#140
Closed
pnrobinson
closed
3 months ago
pnrobinson
commented
4 months ago
Extract disease from phenopacket
Disease is represented in two places. Please extract from the diseases list of the top level (
https://phenopacket-schema.readthedocs.io/en/latest/phenopacket.html
)
Extract more than one if multiple diseases present
If no disease found, WARN (previous phenopackets won't work)
Write test case to check for correct diagnosis from importing a phenopacket
You can use phenopackets from
https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/11q_terminal_deletion/phenopackets
. (fine to shorten the phenopapcket to have only 3 HPOs). Check for disease id and label. If there is a disease element without both, this is an error
Extract disease from phenopacket