Jeff Spence @jeffspence.github.io · Dec 17

Maybe instead, one might want to rank genes by their trait specificity – how important they are for the study trait relative to how important they are across all traits. A trait-specific gene might better capture how “core” it is to trait biology. 5/n

8 likes 2 replies

?

Replies

Jeff Spence · Dec 17

We developed theory to understand what determines burden test gene ranking: surprisingly, these rank by SPECIFICITY! We confirmed this in practice in UKB. This is surprising! Burden tests don’t rank genes by their importance! 6/n

Peter Ellis · Dec 17

I don't think I understand what you mean by "core" here. More broadly, I think trying to define "core" vs" non-core" may be a mirage. It feels a bit like asking what contributes most to Usain Bolt's speed: left leg, right leg, heart or nervous system. 1/n