Sigve Nakken

Hi Barry, Thanks for reaching out! And yeah, you have figured essentially all things out correctly, meaning that PCGR ignores the genotype fields altogether, simply relying on a few INFO...

If you want to contribute code that will enhance this part, you are of course more than welcome :-)

This is more than welcome, Barry. Keep up the good work !

Hi Barry, Thanks for reaching out! The input requirements for CPSR is not as strict as they are for PCGR. Basically, it expects a single-sample VCF file, preferably also with...

Hey Dimitris, Hope all is well on your side too! Yeah, your suggestion makes sense, and this indeed doable, i'll get on to it next week. kind regards, Sigve

Hey Dimitris, Check out the new version (1.5.2), it contains a dedicated cancer rank function. Looking at the underlying evidence data from the Open Targets Platform, i see that some...

Good point @dpolychr! I will add this later on. Basically, to limit noisy evidence/association, there is a requirement that any association considered between a gene and a phenotype term (belonging...

Hi Dimitris, Think maybe that current strategy is somewhat too stringent on retrieval of evidence from Open Targets, so looking into how to relax the thresholds quite a bit, enabling...