Katherine M. Siewert

TL;DR: A new summary statistic, β, is proposed, which detects clusters of alleles at similar frequencies at potentially subjected to long-term balancing selection in humans and reports two balanced haplotypes—localized to the genes WFS1 and CADM2—that are strongly linked to association signals for complex traits.

TL;DR: In this paper, the authors developed a new method, S-LDXR, for stratifying squared trans-ethnic genetic correlation across genomic annotations and applied it to genome-wide summary statistics for 31 diseases and complex traits in East Asians and Europeans.

TL;DR: It is observed that genetically elevated plasma HDL and LDL levels appear to be associated with increased BC risk, with the goal of developing potential therapeutic strategies aimed at altering the cholesterol-mediated effect on BC risk.

TL;DR: The β(2) statistic, which detects balancing selection using both polymorphism and substitution data, is proposed and the variance of all β statistics are derived, allowing for their standardization and thereby reducing the influence of parameters which can confound other selection tests.

TL;DR: S-LDXR developed a new method for stratifying squared trans-ethnic genetic correlation across genomic annotations, and applied it to genome-wide association summary statistics for 31 diseases and complex traits in East Asians and Europeans, finding causal effect sizes were more population-specific in functionally important regions, including conserved and regulatory regions.