EBIvariation / CMAT

ClinVar Mapping and Annotation Toolkit
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Investigate decrease in used trait mappings from 2024.03 to 2024.06 submissions #427

Open apriltuesday opened 6 months ago

apriltuesday commented 6 months ago

Refer to metrics here - total number of distinct trait mappings used decreased by about 3000 from 2024.03 to 2024.06. We should determine whether this is due to a change in ClinVar or a change in our processing, and if necessary improve metrics or pipeline outputs to make it easier to monitor these changes.

At least part of this is due to improved automated mappings, particularly prioritising exact string matches and removing previous mappings that were not as precise (e.g. 3-methylglutaconic aciduria type 5 was previously mapped to MONDO_0012435 and Orphanet_66634, but now is mapped only to MONDO_0012435).