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Article

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

Bioinformatics (Oxford, England) - 1 May 2015

Chen Rui, Wei Qiang, Zhan Xiaowei, Zhong Xue, Sutcliffe James S, Cox Nancy J, Cook Edwin H, Li Chun, Chen Wei, Li Bingshan

Abstract excerpt

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...

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PMID: 25568282
DOI: 10.1093/bioinformatics/btu860
PMCID: PMC4410665

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