Phenotype terminology mapping from Genebass to OpenTargets

Dear Team,

I find HECW2 has a significant association in burden test mode, however, this entry is not showed in opentargets. I guess it is because the phenotype is not mapping to human disease, correct?

Hi @Shicheng_Guo,

The Platform does not display this association because it does not meet the statistical significance threshold of 6.7 × 10-7 established by Genebass in their publication.

In our gene burden tests, which focus on collapsing rare variants, the thresholds for significance are typically stricter than those in standard GWAS because of the variants lower frequency.

In general, I don’t think we currently have an universally accepted standard for what constitutes significance. As a result, you’ll see that different resources set their own thresholds. You can learn more about how we process each of them in our dedicated post: How the Open Targets Platform Integrates Gene Burden Analyses


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