Pablo Botas

Hi, I just noticed that *seizure cluster* is now under *recurrent*, which is under *temporal pattern* in *clinical course*. Why is the term not simply "cluster" and then it can...

Thank you both for your explanation. I understand the logic here. The only issue I had is that it is surprising to see *seizure cluster* as such as special case...

Wouldn't seizure cluster be equivalent to sequential seizure here? It looks to me that it is more than just a modifier. It looks like it is its own entity. Source:...

Yes, I also think this would be useful natively from Exomiser

Hi, I would choose the 3rd option. It gives you the most flexibility and is compliant with a sensible default of using all available DBs for filtering. This means that...

Hi! This is also a question I had. It would be useful to be able to re-evaluate a given VCF with pathogenicity already calculated over a new/evolved set of HPO...

Thanks @julesjacobsen, I am still not sure about the logic you suggest. But I will definitely give it a try as soon as possible and come back with answers (and...

Hi, Yes, an example from today: this patient says they have apnea. The clinician analyzing the case suspects that the patient "wrongly" reports apnea, but it is actually a consequence...

That was a toy example, some times they report 4+ possible phenotypes that could lead to different results. True that they need to make decisions, but they want to make...

Hi, Sadly I think I don't have the bandwidth to tackle this problem, although it would definitely be interesting. Does the NER annotating datetime have any explicit knowledge of the...