Comparison of several sequence-based association methods in pedigrees


Genome-wide association studies are very powerful in determining the genetic variants affecting complex diseases. Most of the available methods are very useful in detecting association between common variants and complex diseases. Recently, methods to detect rare variants in association with complex diseases have been developed with the increasingly available sequencing data from next-generation sequencing. In this paper, we evaluate and compare several of these recent methods for performing statistical association using whole genome sequencing data in pedigrees. Specifically, functional principal component analysis (FPCA), extended combined multivariate and collapsing (CMC) method for families, a generalized T2 method, and chi-square minimum approach were compared by analyzing all the genetic variants, common and rare, of both the real data set and the simulated data set provided as part of Genetic Analysis Workshop 18.



Document Type

Conference Proceeding



Publication Date


Recommended Citation

Mathew, George, Varghese George, and Hongyan Xu. Comparison of several sequence-based association methods in pedigrees." In BMC proceedings, vol. 8, no. Suppl 1, p. S48. BioMed Central Ltd, 2014."