Jeff Spence @jeffspence.github.io · 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
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NPR2 is the second most significant gene in the burden tests, but is in only the 243rd most significant GWAS locus. Homozygous LoFs in NPR2 cause severe short stature, but don’t affect intelligence, facial features, etc… seems like NPR2 is height specific! 13/n