everycure-org / matrix-disease-list

The MATRIX disease list seeks to filter the set of all diseases and their categories to those that can be specifically targeted by a drug.
https://monarch-initiative.github.io/matrix-disease-list/
4 stars 0 forks source link

Add clingen and omim filters into the disease list #5

Closed matentzn closed 1 month ago

matentzn commented 1 month ago

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

elliottsharp commented 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?

matentzn commented 1 month ago

@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.

elliottsharp commented 1 month ago

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

2024.08.09-clingen_diseases.xlsx