Jeff Spence @jeffspence.github.io · Nov 7 In contrast, HHIP (hedgehog interacting protein) has tons of GWAS hits near it, and basically no burden signal. HHIP makes sense as a height hit, but it’s also been implicated in COPD, pituitary hormone deficiency, etc… It’s NOT height specific! 14/n
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Specificity is not the end of the story. Burden tests and GWAS also prioritize genes based on things that have absolutely nothing to do with traits. Burden tests aggregate signal across variants. Long genes have more variants, and so tend to get prioritized higher. 15/n