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monarch-initiative / dipper

Data Ingestion Pipeline for Monarch
https://dipper.readthedocs.io/en/latest/
BSD 3-Clause "New" or "Revised" License
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Pull in drug response phenotypes and protective variants from ClinVar #547

Open kshefchek opened 6 years ago

kshefchek commented 6 years ago

For example: https://www.ncbi.nlm.nih.gov/clinvar/variation/722/ - NAT2 variant and OMIM:243400 (Slow Acetylation)

We could pull these in if there is an associated OMIM or medgen identifier.

Protective variant: https://www.ncbi.nlm.nih.gov/clinvar/variation/4467/

TomConlin commented 6 years ago

clinvarxml_subset.xml.gz