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Quality control on gene-disease assocs #685
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One of these are due to monarch-initiative/mondo#560, but not all |
Which genes? LTBP2, CEP152, FBN2 are not associated to Marfan in the latest ingest. |
I'm going to assume the only gene we want to display FBN1. For ClinVar: For CTD: |
?There are multiple problems and this should be discussed on zoom asap
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Theres not too much to do until we can push the latest data and version of mondo. In the meantime I've removed CTD is_marker_for associations on production. |
I still see the is_marker_fors? When will the next data release be? Should we patch in the interim? |
I realized that filtering on relation is not always reliable, SciGraph/golr-loader#35 I think the better solution is to require one more sources for each association, eg is_defined_by(omim OR omia ...), our sources and counts are here. Happy to specify omim as a requirement for all associations. |
Many of these are wrong
https://monarchinitiative.org/disease/MONDO:0007947#genes
@kshefchek to fill in details
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