A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.

ABSTRACT:

Motivation

A major focus of current sequencing studies for human genetics is to identify rare variants associated with complex diseases. Aside from reduced power of detecting associated rare variants, controlling for population stratification is particularly challenging for rare variants. Transmission/disequilibrium tests (TDT) based on family designs are robust to population stratification and admixture, and therefore provide an effective approach to rare variant association studies to eliminate spurious associations. To increase power of rare variant association analysis, gene-based collapsing methods become standard approaches for analyzing rare variants. Existing methods that extend this strategy to rare variants in families usually combine TDT statistics at individual variants

SUBMITTER: Chen R 

PROVIDER: S-EPMC4410665 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature