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ClinGen curated Kidney Disease CDWG genes as a 6th pillar #4

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berntpopp opened this issue May 23, 2023 · 0 comments

Open

5 tasks

ClinGen curated Kidney Disease CDWG genes as a 6th pillar #4

berntpopp opened this issue May 23, 2023 · 0 comments

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berntpopp commented May 23, 2023

We could include the ClinGen curated Kidney Disease CDWG genes as a 6th pillar:
https://clinicalgenome.org/working-groups/clinical-domain/clingen-kidney-disease-clinical-domain-working-group/

Example link (Kidney Cystic and Ciliopathy Disorders Expert Panel):
https://search.clinicalgenome.org/kb/affiliate/10066?page=1&size=25&search=

check API access possibility for ClinGen curations
implement script
implement merging of different lists
how do we handle kidney cancer (no specific expert panel)
implement scoring logic

berntpopp added the enhancement label

berntpopp self-assigned this

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