neurogenomics / RareDiseasePrioritisation

Prioritise cell-type-specific gene targets from the Rare Disease Celltyping project.
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Generate report on the number of HPO disease modifiers #20

Closed bschilder closed 1 year ago

bschilder commented 1 year ago
bschilder commented 1 year ago

Full report here:

https://neurogenomics.github.io/RareDiseasePrioritisation/reports/HPO_annotations

bschilder commented 1 year ago

@NathanSkene requested the following:

phenotypes with 20+ diseases’s with associated meta-data

NathanSkene commented 1 year ago

What I meant was a bit more detailed than that. Meant what we discussed on the call the other day:

Can we say, that this phenotype, when it acts via this celltype, has a different clinical course?

bschilder commented 1 year ago

Got it, will write a separate report for this.

bschilder commented 1 year ago

Made a new issue for this here: #23