A Weighted U Statistic for Genetic Association Analyses of Sequencing Data

Fuente: arXiv
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Main Authors: Wei, Changshuai, Li, Ming, He, Zihuai, Vsevolozhskaya, Olga, Schaid, Daniel J., Lu, Qing
Format: Preprint
Published: 2015
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author Wei, Changshuai
Li, Ming
He, Zihuai
Vsevolozhskaya, Olga
Schaid, Daniel J.
Lu, Qing
author_facet Wei, Changshuai
Li, Ming
He, Zihuai
Vsevolozhskaya, Olga
Schaid, Daniel J.
Lu, Qing
contents With advancements in next generation sequencing technology, a massive amount of sequencing data are generated, offering a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex diseases. Nevertheless, this poses a great challenge for the statistical analysis of high-dimensional sequencing data. The association analyses based on traditional statistical methods suffer substantial power loss because of the low frequency of genetic variants and the extremely high dimensionality of the data. We developed a weighted U statistic, referred to as WU-seq, for the high-dimensional association analysis of sequencing data. Based on a non-parametric U statistic, WU-SEQ makes no assumption of the underlying disease model and phenotype distribution, and can be applied to a variety of phenotypes. Through simulation studies and an empirical study, we showed that WU-SEQ outperformed a commonly used SKAT method when the underlying assumptions were violated (e.g., the phenotype followed a heavy-tailed distribution). Even when the assumptions were satisfied, WU-SEQ still attained comparable performance to SKAT. Finally, we applied WU-seq to sequencing data from the Dallas Heart Study (DHS), and detected an association between ANGPTL 4 and very low density lipoprotein cholesterol.
format Preprint
id arxiv_https___arxiv_org_abs_1505_01204
institution arXiv
publishDate 2015
record_format arxiv
spellingShingle A Weighted U Statistic for Genetic Association Analyses of Sequencing Data
Wei, Changshuai
Li, Ming
He, Zihuai
Vsevolozhskaya, Olga
Schaid, Daniel J.
Lu, Qing
Methodology
Artificial Intelligence
Machine Learning
Quantitative Methods
With advancements in next generation sequencing technology, a massive amount of sequencing data are generated, offering a great opportunity to comprehensively investigate the role of rare variants in the genetic etiology of complex diseases. Nevertheless, this poses a great challenge for the statistical analysis of high-dimensional sequencing data. The association analyses based on traditional statistical methods suffer substantial power loss because of the low frequency of genetic variants and the extremely high dimensionality of the data. We developed a weighted U statistic, referred to as WU-seq, for the high-dimensional association analysis of sequencing data. Based on a non-parametric U statistic, WU-SEQ makes no assumption of the underlying disease model and phenotype distribution, and can be applied to a variety of phenotypes. Through simulation studies and an empirical study, we showed that WU-SEQ outperformed a commonly used SKAT method when the underlying assumptions were violated (e.g., the phenotype followed a heavy-tailed distribution). Even when the assumptions were satisfied, WU-SEQ still attained comparable performance to SKAT. Finally, we applied WU-seq to sequencing data from the Dallas Heart Study (DHS), and detected an association between ANGPTL 4 and very low density lipoprotein cholesterol.
title A Weighted U Statistic for Genetic Association Analyses of Sequencing Data
topic Methodology
Artificial Intelligence
Machine Learning
Quantitative Methods
url https://arxiv.org/abs/1505.01204