Closed cassimons closed 2 months ago
I wasn't sure in general how this would slot in - this could be a good fit, adding in the priority annotation during result generation.
Alternatively we add a separate polishing step for the results, where we could feed in semsimian, exomiser, and any other 'preferred genes for cohort/participant' input. I wouldn't want to drop all those alternatives into this stage as it'll become quite messy. That would separate out the 4 phases into distinct runtimes
Closed after #426
Proposed Changes
Attempts to add genlevel phenotype matching to main workflow. This is currently broken, but I thought it might help discussion.
Uses Semsimian package to compare patient phenotypes with phenotypes associated with gene. If one or more terms are above the similarity threshold then it is considered a phenotype match.
Currently reports the result as part of the panels object. This "fits" in terms of being functionally similar, but we may want to think about renaming this.
Questions:
Todo: