monarch-initiative / gpsea

A Python library for discovery of genotype-phenotype associations
https://monarch-initiative.github.io/gpsea/stable
MIT License
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Still problems importing structural variants #215

Closed pnrobinson closed 1 week ago

pnrobinson commented 1 month ago
cohort = load_phenopacket_folder(pp_directory=phenopacket_input_folder, cohort_creator=cohort_creator)

leads to errors for each patient with a structural variant, e.g.,

Patient PMID_20513137_individual_NF00663_GSM_GSM492680 has an error with variant SO:1000029_HGNC:7765_NF1. Try again or remove variant form testing

I am using the new cohort for NF1.

ielis commented 1 week ago

This issue may have been resolved in the meantime. I just loaded the NF1 cohort from Phenopacket Store 0.1.19 and the cohort loaded with no issues.

Curiously, I did not find any individual with an ID that starts with PMID_20513137. So, there still may be something else going on.

However, I will close this because the NF1 cohort loads fine.