iobio / genepanel.iobio

Genepanel.iobio: generate list of genes based on suspected conditions and phenotypes.
https://genepanel.iobio.io/
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Handle ambiguous terms #351

Open AlistairNWard opened 5 years ago

AlistairNWard commented 5 years ago

Point for discussion. Some terms return many types. For example "congenital disorder of glycosylation" has many different subtypes and no generic. Would be nice to look into a couple of options to make this better.

a) aggregate results from all terms and only return the most recurrent genes present across all subtypes, b) aggregate results from all terms and return the top hits / associated genes for each subtypes, c) some combination of a and b, d) find resources that help identify distinguishing features between the subtypes. E.g. if you specify "congenital disorder of glycosylation", can we prompt the user with questions that would help refine the choice? E.g. is this inherited in a dominant fashion, or does the patient also have this phenotype etc?