exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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Age of onset filter #254

Open damiansm opened 6 years ago

damiansm commented 6 years ago

Should we somehow have a disease-level age of onset filter one day i.e. if we know the genome is from a newborn don't highlight a phenotype match based on Parkinson's disease etc!

Slightly less silly versions of this are sometimes the reason the clinicians reject an Exomiser candidate when I present it to them and would be cool to automate somehow

julesjacobsen commented 5 years ago

We'd need more information about the patient in order to do this. Something like a phenopacket would fit the bill. Assuming age of onset of each phenotype term is provided it would also allow for much more accurate disease diagnosis.

julesjacobsen commented 1 year ago

Requires #373

Will also need changes to : [ ] disease_hp table schema, [ ] disease DAO [ ] disease model [ ] update to Sample to include Age/Onset, PhenotypicFeature [ ] signature change to Prioritiser to accept a Sample. [ ] update to HiPhive logic to filter out mismatched diseases for a patient