Jeff Spence @jeffspence.github.io · Nov 7

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 AND 2. Non-coding variants in tissue-specific ATAC peaks are more highly ranked. 11/n

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Jeff Spence · Nov 7

To recap: Burden tests prioritize trait-SPECIFIC GENES. GWAS prioritize genes near trait-SPECIFIC VARIANTS. Looking at height gives a couple of really nice examples: NPR2 and HHIP. 12/n