Closed matentzn closed 1 month ago
@matentzn are you able to share an extract of ClinGen and OMIM diseases which are not already included? And also which of these diseases are leaf direct parents?
@sabrinatoro at this stage, I think every single addition we get through adding filter should be sanctioned.. I would prefer if we get the exact list of diseases we should not be adding as part of the review.
If you think the clingen filter brings too many false positives, I will remove it again.
I will dimiss your review to not accidentally merge this.
additional diseases from clingen non parent ancestors (n=12) and clingen leaf direct parents (n=146) are theoretically drug targetable and diagnosable so should be included in my view
new clingen leaf parent ancestors f_clingen = TRUE f_leaf = null f_icd_category = null f_orphanetdisorder = null f_orphanet_subtype = null f_omim = null f_omimps_descendent = null f_leaf_direct_parent = TRUE
new clingen non parent ancestors f_clingen = TRUE f_leaf = null f_icd_category = null f_orphanetdisorder = null f_orphanet_subtype = null f_omim = null f_omimps_descendent = null f_leaf_direct_parent = null
Fixes #4 #3
Summary
ClinGen curated diseases and OMIM curated diseases are strong indicators for something being a treatable, diagnosable disease. We add both filters back here.
The disease list is only insignificantly increased to 18543 disease after this change.
Checklist
General SOP for PRs