Jeff Spence @jeffspence.github.io · 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
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Why are you using p-values for ranking? bsky.app/profile/grin...
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… NPR2 is height specific! 11/n