Pablo Botas

Symptom uncertainty

4

Hi! In Dx29 we have received the request to allow phenotype hypothesis or to at least have the ability to assign a level of uncertainty to symptoms such that it...

Saving/dumping Exomiser state for future reanalysis

1

Hi! We have created Dx29 (www.dx29.ai), a free platform to be used by physicians to accelerate rare disease diagnosis. As part of it, we run Exomiser, so, first of all,...

Replace datetime with year

3

Hi! I have been looking for the functionality to replace datetime with year or month/year information. This would be very useful to reduce the amount of information while keeping it...

Currently CrossMap does not remove `alt_variant == ref_variant` when there are 2 alt variants. It's the VCF's fault because that is hardly a variant, but I thought that you should...