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RobokopU24 / NewSourceProposals

New Knowledge Providers (KPs) for the Data Management Oversight Group (DMOG) to review
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ClinGen Gene-Disease associations #54

Open beasleyjonm opened 4 months ago

beasleyjonm commented 4 months ago

Dr. Bradford Powell and his student Vibhor Gupta have been working on integrating the ClinGen knowledge source (https://clinicalgenome.org/) into ROBOKOP. They've already made lots of progress towards building parsers for this (https://github.com/Vibhorgupta31/ORION/tree/gene_disease_validity, https://github.com/Vibhorgupta31/ORION/tree/variant_patho, https://github.com/Vibhorgupta31/ORION/tree/clingen-dosage-sensitivity), but I also asked them, to fill out a DMOG scoring sheet (attached) to help us track the source! ClinGen-DMOG_ScoreSheet-DRAFT 20240716.docx

eKathleenCarter commented 4 months ago

Thank you for including the score sheet. Please let Dr. Powell know that any additional information he would like us to have can be added as a comment believe the form.