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Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection
2023-12-04
genetic and genomic medicine
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The genetic architecture of human diseases and complex traits has been extensively studied, but little is known about the relationship of causal disease effect sizes between proximal SNPs, which have largely been assumed to be independent. We introduce a new method, LD SNP-pair effect correlation regression (LDSPEC), to estimate the correlation of causal disease effect sizes of derived alleles between proximal SNPs, depending on their allele frequencies, LD, and functional annotations; LDSPEC pr...
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