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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Improve Exomiser HTML #443

Open pnrobinson opened 2 years ago

pnrobinson commented 2 years ago

In recent work, we are getting on the order of 50-100 HPO terms per proband (from EHR text mining). This makes the current output of Exomiser unweildly. Even with smaller numbers of terms, the output could be improved. Here are some thoughts

julesjacobsen commented 1 year ago

@iimpulse - in case you want some more inspiration?

ielis commented 1 year ago

I wonder if you would find it useful to allow sorting the phenotypic features in the output, e.g. to put the more similar features together. In principle, something like hierarchical sorting here.

julesjacobsen commented 1 year ago

The 'sort' order is currently the input order, but I like the idea of sorting like this. Alternatively ordering by high-level system under Phenotypic abnormality first, then by descending IC.