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Update and sort the list of clinical significance values #123

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merged 2 commits into from May 27, 2021

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tskir
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@tskir tskir commented May 27, 2021

Related to EBIvariation/CMAT#243.

When running the ClinVar pipeline, it was discovered that two levels of clinical significance values are present in ClinVar, but not in our schema. This discrepancy has been present for a while, it just didn't trigger before because less evidence strings were generated (only the EFO mapped ones).

I've added the two missing levels (“confers sensitivity” and “conflicting data from submitters”) and also sorted the list lexicographically for readability.

@ireneisdoomed
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ireneisdoomed commented May 27, 2021

@DSuveges How would we go about this regarding the scoring? We would need to assign these clinical significances to a category to adjust the weight, right? Also to update the ETL config file and our documentation.

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@ireneisdoomed

We would need to assign these clinical significances to a category to adjust the weight, right? Also to update the ETL config file and our documentation.

Yes, that's correct. So we have two new categories:

 "confers sensitivity",
"conflicting data from submitters",

There are 5 tiers in the score map: 0, 0.3, 0.5, 0.7, 0.9. I think confers sensitivity rather matches 0.5, while conflicting data from submitters matches 0.3.

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All good.

@ireneisdoomed ireneisdoomed merged commit 8785820 into master May 27, 2021
@ireneisdoomed ireneisdoomed deleted the clinical-significance-levels-fix branch May 27, 2021 08:51
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