Jeff Spence @jeffspence.github.io · Nov 7

We checked for ourselves, and found: 1. Most burden hits are near a GWAS hit (they converge!) BUT 2. The ranking of hits is surprisingly discordant. E.g., the second most significant burden hit for height is ranked 243rd in GWAS! 4/n

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Jeff Spence · Nov 7

If GWAS and burden tests are ranking genes differently then how exactly are they doing that ranking? More fundamentally, how SHOULD we rank genes? We propose two possible criteria: trait IMPORTANCE and trait SPECIFICITY. 5/n