Jeff Spence @jeffspence.github.io · Dec 17

We find that both of these ways of being specific contribute to variants being ranked highly in GWAS: 1) Coding variants in specifically-expressed genes are more highly ranked 2) Non-coding variants in tissue-specific ATAC peaks are more highly ranked 9/n

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Jeff Spence · Dec 17

To recap so far: burden tests prioritize trait-specific genes; GWAS prioritize genes near trait-specific variants. Height GWAS and burden tests give a couple of really nice examples: NPR2 and HHIP. 10/n