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monarch-initiative / mondo-ingest

Coordinating the mondo-ingest with external sources
https://monarch-initiative.github.io/mondo-ingest/
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Add DECIPHER mappings #242

Open kevinschaper opened 1 year ago

kevinschaper commented 1 year ago

There are about 300 entires in phenotype.hpoa that use DECIPHER IDs in the disease column, to get those d2p associations loaded into monarch-kg we need decipher -> mondo mappings to be added to mondo.sssom.tsv

matentzn commented 1 year ago

@joeflack4 can you put this on your list right somewhere among GARD and MedGen?

https://www.deciphergenomics.org/

I don't know what the best way to obtain DECIPHER is, this will require some reaching out to Chris and googling.. Thanks!

joeflack4 commented 1 year ago

Roger that!

Depends on:

joeflack4 commented 2 months ago

Unassigning myself on this one, per decision at meeting. Low / no priority.