A comparative analysis of family-based and population-based association tests using whole genome sequence data.

ABSTRACT: The revolution in next-generation sequencing has made obtaining both common and rare high-quality sequence variants across the entire genome feasible. Because researchers are now faced with the analytical challenges of handling a massive amount of genetic variant information from sequencing studies, numerous methods have been developed to assess the impact of both common and rare variants on disease traits. In this report, whole genome sequencing data from Genetic Analysis Workshop 18 was used to compare the power of several methods, considering both family-based and population-based designs, to detect association with variants in the MAP4 gene region and on chromosome 3 with blood pressure. To prioritize variants across the genome for testing, variants were first functionally assessed usi

SUBMITTER: Zhou JJ 

PROVIDER: S-EPMC4143682 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature