Comments (6)
Why not just make different associations? Doesn't each have it's own evidence/provenance etc?
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@cmungall could you clarify your suggestion? One document per association could lead to a lot of additional documents since we infer across variants; some genes have a lot of causal variants for a disease (eg BRCA). One document per relation is possible, but IMO we'll still be showing too much duplication to the user (or operating on it in ontobio).
As a potential workaround for G2D, I have split up causal vs non causal associations. This way they can be displayed separately to our end users. The downside is that there will be some redundancy between the two gene-disease lists, as CTD and Coriell will often report he causal gene in additional to those with more hypothetical evidence.
hypothetical g2d - gwas, ctd, coriell
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I think your solution is on the right lines. I think having a smaller set of relationship types where we separate evidence from relation ("likely pathogenic" should not be a relation) should in theory mean high quality resources should not generally conflict
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The relation that maps to ACMG likely_pathogenic is all in yaml file(s), so it's an easy change when we're ready.
Thinking about this from the UI perspective, should we have one list of causal genes, and one list of all genes so that the latter list fully subsumes the list of causal genes (instead of partially overlapping sets)?
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Adding a little reminder that Chris' suggestion is still not implemented. Instead, we have a list of all genes, and the causal gene in this, our favorite example, shows up 6th on the list.
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Related Issues (20)
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