Open berntpopp opened 1 year ago
Also annotate the first publication from OMIM. This will allow us to make a time plot of genes associated over time.
Further possible annotations:
Output the HPO terms for kidney disease groups to files with their names and weights and make the table available in documentation.
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: