Generate consistency report for disease-gene associations

[cmungall]

A number of different sources report d2g associations, but these may not always be consistent. An additional complication is that sometimes these may be made at different levels (e.g. a more generic disease grouping in ORDO).

This could be part of a more generic consistency reporting framework we want in Mondo where we want to report consistency of subClassOf between two ontologies etc (cc @balhoff @ShahimEssaid )

Fields in the report could be

• Subject (Disease)
• Relation
• Object (Gene)
• Source1
• ...
• SourceN

For the source fields the values could be: present, different-but-consistent, not consistent, absent

[maglott]

Would the value of relation capture the level of the relationship? i.e. generic vs. specific? Ideally , if there is a generial node, say from Orphanet, and 3 gene-specific subnodes,say from OMIM., and Orphanet reports 3 genes, they ideally would correspond to the union of the three values from OMIM.

[cmungall]

@maglott - good point. I think in this case the value should be something like CONSISTENT-SUBSUMES

[joeflack4]

@nicolevasilevsky Hey Nicole. I'm not even sure where to begin with this one. Maybe a good one to discuss in a call (my guess is that Dazhi was briefed on this in February) rather than a thread, but if you think you can provide me enough information here to get me started, feel free to proceed.

[nicolevasilevsky]

I'll add this to the QC call agenda :)