title: Comparing strategies for combined testing of rare and common variants in whole sequence and genome-wide genotype data.
abstract: 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.
authors.affiliation: Department of Genetic Epidemiology, University Medical Center, Georg-August University Göttingen, Humboldtallee 32, 37073 Göttingen, Germany.
authors.forename: Dörthe
authors.initials: D
authors.lastname: Malzahn
authors.affiliation: Department of Genetic Epidemiology, University Medical Center, Georg-August University Göttingen, Humboldtallee 32, 37073 Göttingen, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Friedrichs
authors.affiliation: Department of Genetic Epidemiology, University Medical Center, Georg-August University Göttingen, Humboldtallee 32, 37073 Göttingen, Germany.
authors.forename: Heike
authors.initials: H
authors.lastname: Bickeböller