monarch-initiative / phenopacket-store

Collection of phenopackets
https://monarch-initiative.github.io/phenopacket-store/
BSD 3-Clause "New" or "Revised" License
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all_phenopackets does not currently show Structural variants. #93

Open pnrobinson opened 1 month ago

pnrobinson commented 1 month ago

Some fields are empty, e.g.

Loeys-Dietz syndrome   4 | OMIM:614816 | 1-II:1 | TGFB2 |   |   | PMID:22772368

some have other things

Jacobsen syndrome | OMIM:147791 | 131 | <ppktstore.archive.cohort.Cohort   object at 0x15d519be0> | PMID:15266616

It is possible these are all structural variants. But we should enforce that all phenopackets have a variant and should show that here