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all_phenopackets does not currently show Structural variants. #93

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pnrobinson opened this issue May 21, 2024 · 0 comments

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pnrobinson commented May 21, 2024

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

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pnrobinson added the bug label

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