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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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A supplement table with potentially usable case reports #41

Closed ielis closed 9 months ago

ielis commented 10 months ago

@pnrobinson the supplement table S1 of the paper has potentially useful case reports.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7173875/

A screenshot with a table excerpt:

image

pnrobinson commented 9 months ago

This data was included in PRIORI-T and seems to be the only dataset that we can easily use from that. I have added the OMIM ids.

pnrobinson commented 9 months ago

After a closer look, the data is not always consistent and some of the rows appear pretty noisy. I think it is easier to look elsewhere.