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broadinstitute / genetic-prevalence-estimator

https://genie.broadinstitute.org/
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Allow including variants based on condition in ClinVar #63

Open nawatts opened 3 years ago

nawatts commented 2 years ago

See if there's a complete list of Medgen conditions that can be downloaded instead of relying on those found in the ClinVar XML file.

nawatts commented 2 years ago

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/disease_names looks promising (see https://ftp.ncbi.nlm.nih.gov/pub/clinvar/README.txt for information).