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monarch-initiative / 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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Subjects with Geleophysic dysplasia 2 in *FBN1* cohort are exact phenotypic duplicates #29

Closed ielis closed 10 months ago

ielis commented 1 year ago

The 10 subjects with Geleophysic dysplasia 2 are exact phenotypic duplicates - they contain exactly the same HPO terms.

Despite being different in the primary data (per Peter's Slack message), the samples may ended being identical after removing the ancestors of the observed data (sanitation).

pnrobinson commented 10 months ago

checked this in the original data and they are not exact duplicates. The latest versions should be ok