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Genetic association studies, in particular the genome-wide association study design, have provided a wealth of novel insights into the aetiology of a wide range of human diseases and traits. The next challenge consists of understanding the…

Gene-based testing is a commonly employed strategy in many genetic association studies. Gene-trait associations can be complex due to underlying population heterogeneity, gene-environment interactions, and various other reasons. Existing…

统计方法学 · 统计学 2020-12-15 Tianying Wang , Iuliana Ionita-Laza , Ying Wei

In genetic association studies, detecting phenotype-genotype association is a primary goal. We assume that the relationship between the data -phenotype, genetic markers and environmental covariates - can be modelled by a generalized linear…

统计方法学 · 统计学 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

统计方法学 · 统计学 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

We generalize Levene's test for variance (scale) heterogeneity between $k$ groups for more complex data, which includes sample correlation and group membership uncertainty. Following a two-stage regression framework, we show that least…

统计方法学 · 统计学 2016-05-19 David Soave , Lei Sun

With the advance of high-throughput sequencing technologies, it has become feasible to investigate the influence of the entire spectrum of sequencing variations on complex human diseases. Although association studies utilizing the new…

统计方法学 · 统计学 2025-08-19 Ming Li , Zihuai He , Min Zhang , Xiaowei Zhan , Changshuai Wei , Robert C Elston , Qing Lu

Genome-wide association studies (GWAS) have identified hundreds of loci at very stringent levels of statistical significance across many different human traits. However, it is now clear that very large samples (n~10^4-10^5) are needed to…

基因组学 · 定量生物学 2013-08-20 Inti Pedroso

Genome-wide association studies (GWAS) have emerged as a rich source of genetic clues into disease biology, and they have revealed strong genetic correlations among many diseases and traits. Some of these genetic correlations may reflect…

统计方法学 · 统计学 2018-11-28 Luke J. O'Connor , Alkes L. Price

Large case/control Genome-Wide Association Studies (GWAS) often include groups of related individuals with known relationships. When testing for associations at a given locus, current methods incorporate only the familial relationships…

应用统计 · 统计学 2014-08-01 Joshua N. Sampson , Bill Wheeler , Peng Li , Jianxin Shi

Genome-wide association studies (GWAS) have been widely used to examine the association between single nucleotide polymorphisms (SNPs) and complex traits, where both the sample size n and the number of SNPs p can be very large. Recently,…

统计方法学 · 统计学 2019-03-05 Bingxin Zhao , Hongtu Zhu

When testing for the association of a single SNP with a phenotypic response, one usually considers an additive genetic model, assuming that the mean of of the response for the heterozygous state is the average of the means for the two…

统计方法学 · 统计学 2025-01-07 Dominic Edelmann , Fernando Castro-Prado , Jelle J. Goeman

Sequencing-based studies are emerging as a major tool for genetic association studies of complex diseases. These studies pose great challenges to the traditional statistical methods (e.g., single-locus analyses based on regression methods)…

统计方法学 · 统计学 2025-08-18 Changshuai Wei , Qing Lu

Studying the effects of groups of Single Nucleotide Polymorphisms (SNPs), as in a gene, genetic pathway, or network, can provide novel insight into complex diseases, above that which can be gleaned from studying SNPs individually. Common…

应用统计 · 统计学 2017-10-12 Ryan Sun , Xihong Lin

Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…

统计方法学 · 统计学 2014-05-27 Zihuai He , Min Zhang , Xiaowei Zhan , Qing Lu

Many complex disease syndromes such as asthma consist of a large number of highly related, rather than independent, clinical phenotypes, raising a new technical challenge in identifying genetic variations associated simultaneously with…

机器学习 · 统计学 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with complex traits, and some variants are shown to be associated with multiple complex traits. Genetic covariance between two traits is defined…

统计方法学 · 统计学 2023-10-06 Jianqiao Wang , Sai Li , Hongzhe Li

In this paper we have proposed a model for the distribution of allelic probabilities for generating populations as reliably as possible. Our objective was to develop such a model which would allow simulating allelic probabilities with…

Since most analysis software for genome-wide association studies (GWAS) currently exploit only unrelated individuals, there is a need for efficient applications that can handle general pedigree data or mixtures of both population and…

应用统计 · 统计学 2014-12-23 Hua Zhou , John Blangero , Thomas D. Dyer , Kei-hang K. Chan , Kenneth Lange , Eric M. Sobel

Understanding how genetic variants influence cellular-level processes is an important step towards understanding how they influence important organismal-level traits, or "phenotypes", including human disease susceptibility. To this end…

统计方法学 · 统计学 2013-07-30 Heejung Shim , Matthew Stephens

We consider the problems of hypothesis testing and model comparison under a flexible Bayesian linear regression model whose formulation is closely connected with the linear mixed effect model and the parametric models for SNP set analysis…

统计方法学 · 统计学 2015-02-24 Xiaoquan Wen
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