Comparing strategies for combined testing of rare and common variants in whole sequence and genome-wide genotype data

[摘要] We used our extension of the kernel score test to family data to analyze real and simulated baseline systolic blood pressure in extended pedigrees. We compared the power for different kernels and for different weightings of genetic markers. Moreover, we compared the power of rare and common markers with 3 strategies for joint testing and on marker panels with different densities. Marker weights had much greater influence on power than the kernel chosen. Inverse minor allele frequency weights often increased power on common markers but could decrease power on rare markers. Furthermore, defining the gene region based on linkage disequilibrium blocks often yielded robust power of joint tests of rare and common markers.

[发布日期] 2016-10-18

[关键词] Common SNPs;Joint Test;Genetic Analysis Workshop;Baseline Systolic Blood Pressure;Rare SNPs