clinvar submitters and conditions

broadinstitute / seqr-loading-pipelines

hail-based pipelines for annotating variant callsets and exporting them to elasticsearch

MIT License

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clinvar submitters and conditions #739

Closed jklugherz closed 5 months ago

jklugherz commented 5 months ago

fetches clinvar submission summary via ftp and uses the Submitter and ReportedPhenotypeInfo columns, joining on rsid from the clinvar vcf to get submitters and conditions for each VariationID