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Epilepsy semantic similarity analysis

Question: How does the patient-reported data correspond to the gold standard phenotype descriptions in the Monarch Initiative?

Open questions

  • Which phenotypes associated with diseases are not covered at all in the survey data?

To do:

  • break out KAND patients by which mutation they have
    • Could do a clustered bar chart that groups by mutation
  • Ramona, Nicole and Emily to review current analyses and think about additional analysis needed for conference
  • think about next steps and what we can ultimately glean from this analysis (present at conference)

cc @nvasilevsky @rwalls @ehartley @dolson

Edited by Ramona Walls