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monarch-initiative
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phenopacket-store
Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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Fix COL3A1
#33
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ielis
closed
11 months ago
ielis
commented
11 months ago
Hi @pnrobinson a PR with fixes for COL3A1 subjects:
removing duplicate phenotypic features
adding missing interpretation elements (we need to use the phenopackets as positive examples in clustering)
Hi @pnrobinson a PR with fixes for COL3A1 subjects: