Evaluation of gene-based association tests for analyzing rare variants using Genetic Analysis Workshop 18 data.

ABSTRACT: The focus of our work is to evaluate several recently developed pooled association tests for rare variants and assess the impact of different gene annotation methods and binning strategies on the analyses of rare variants under Genetic Analysis Workshop 18 real and simulated data settings. We considered the sample of 103 unrelated individuals with sequence data, genotypes of rare variants from chromosome 3, real phenotype of hypertension status and simulated phenotypes of systolic blood pressure (SBP) and diastolic blood pressure (DBP), and covariates of age, sex, and the interaction between age and sex. In the analysis of real phenotype data, we did not obtain significant results for any binning strategy; however, we observed a slight deviation of the p-values from the uniform distributio

SUBMITTER: Derkach A 

PROVIDER: S-EPMC4143759 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature