damiansm
damiansm
Increased diversity: can we get access to H3 Africa genomes etc.
Lets review how we are doing this again but I think we try and take HPO MOI annotations where possible? But for https://hpo.jax.org/browse/disease/ORPHA:791 there is no MOI HPO code as...
We are probably mixing up a couple of related issues now in this issue. For the original RP example, I think most of these genes really are single gene associated...
It is best to go to https://github.com/exomiser/Exomiser/discussions for the latest software and database links. The db releases are now on globus rather than FTP. We will update the README to...
Yes - the globus link should stay the same for the foreseeable future. On Wed, Nov 12, 2025 at 3:29 PM Grammatikati Konstantin < ***@***.***> wrote: > *Stikus* left a...