neurogenomics/RareDiseasePrioritisation

Generate report on the number of HPO disease modifiers

bschilder opened this issue · 5 comments

  • Severity modifier
  • Lazarin Tiers (manual annotations from Momoko)
  • Lazarin Tiers (auto)
  • age of onset
  • age of death
  • phenotype frequency
  • Evidence
  • Aspect
  • Reference
  • Biocuration
  • Qualifier
  • Sex
  • disease database source
  • additional modifiers

@NathanSkene requested the following:

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

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?

  • To answer this, we want to have at least one phenotype, that has 20 diseases associated with it, where they have at least two different clinical course values (each with >10 diseases)

Got it, will write a separate report for this.

Made a new issue for this here: #23