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Either add functionality to annotate different data sources (OMIM P, inheritance type, GeneCC, HPO based kidney groups, ClinVar variants) to the merged table in the merge script "MergeAnalysesSources.R" or write a separate script.
Either add functionality to annotate different data sources (OMIM P, inheritance type, GeneCC, HPO based kidney groups, ClinVar variants) to the merged table in the merge script "MergeAnalysesSources.R" or write a separate script.
The kidney disease groups could be defined into the "Expert Panels" groups from the "Kidney Disease CDWG":
https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/
I would further add a cancer category and maybe the respective ClinGen expert panel.
We need to define HPO terms for automated assignment to the groups and agree on a scoring logic (majority voting).
TODOs:
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