Understand JSON result

[marta-herranz]

Hello,

I would like to understand how I should interpret the resulting JSON when running Exomiser with a VCF.

There are two fields that I have doubts about the priorityResults: HIPHIVE_PRIORITY and OMIM_PRIORITY. I would like to understand the differences between them and how to know which would be the diseases associated to the gene and the symptoms with which the execution was performed. In many cases I find that the first field only returns a possible disease while the second field returns a longer list.

I have done some tests, starting with a known disease, a VCF and a list of symptoms, to run exomiser with the last two and check if the disease appears in the results. What I find strange is that it appears more times in the OMIM results than in the HIPHIVE_PRIORITY results. Am I misunderstanding something?

Thank you very much in advance Marta

[marta-herranz]

I opened this issue 28 days ago and I still have the same question

[damiansm]

Hi Marta,

The HIPHIVE_PRIORITY shows similarity between the patient's HPO terms and HPO terms asscociated with particular diseases (or with phenotypes associated with mouse and fish models and closeby genes in a protein-protein network). The OMIM_PRIORITY will list all the diseases associated with the genes the gene in question including those with no similarity to the patient. If there is a phenotype match to the disease, the OMIM_PRIORITY also checks whether the mode of inheritance is as expected and penalises the overall priority score if not