Epilepsy semantic similarity analysis
Question: How does the patient-reported data correspond to the gold standard phenotype descriptions in the Monarch Initiative?
Open questions
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Which phenotypes associated with diseases are not covered at all in the survey data?
To do:
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break out KAND patients by which mutation they have -
Could do a clustered bar chart that groups by mutation
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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)