halbritter-lab / kidney-genetics

Kidney-Genetics - database of kidney-related genes
MIT License
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Annotate the merged table #2

Open berntpopp opened 1 year ago

berntpopp commented 1 year ago

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.

  1. Complement-Mediated Kidney Diseases Gene Curation Expert Panel
  2. Congenital Anomalies of the Kidney and Urinary Tract Gene Curation Expert Panel
  3. Glomerulopathy Gene Curation Expert Panel
  4. Kidney Cystic and Ciliopathy Disorders Gene Curation Expert Panel
  5. Tubulopathy Gene Curation Expert Panel
  6. [Hereditary Cancer Gene Curation Expert Panel]https://clinicalgenome.org/affiliation/40023/

We need to define HPO terms for automated assignment to the groups and agree on a scoring logic (majority voting).

TODOs:

berntpopp commented 1 year ago

Also annotate the first publication from OMIM. This will allow us to make a time plot of genes associated over time.

berntpopp commented 1 year ago

Further possible annotations:

berntpopp commented 7 months ago

Output the HPO terms for kidney disease groups to files with their names and weights and make the table available in documentation.