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Exploring the genetic basis of heritable traits remains one of the central challenges in biomedical research. In simple cases, single polymorphic loci explain a significant fraction of the phenotype variability. However, many traits of…

种群与进化 · 定量生物学 2015-03-20 Barbara Rakitsch , Christoph Lippert , Oliver Stegle , Karsten Borgwardt

Genome-wide association studies (GWA studies or GWAS) investigate the relationships between genetic variants such as single-nucleotide polymorphisms (SNPs) and individual traits. Recently, incorporating biological priors together with…

机器学习 · 统计学 2017-09-13 Tao Yang , Paul Thompson , Sihai Zhao , Jieping Ye

Both linear mixed models (LMMs) and sparse regression models are widely used in genetics applications, including, recently, polygenic modeling in genome-wide association studies. These two approaches make very different assumptions, so are…

定量方法 · 定量生物学 2012-11-16 Xiang Zhou , Peter Carbonetto , Matthew Stephens

Linear Mixed Models (LMMs) are important tools in statistical genetics. When used for feature selection, they allow to find a sparse set of genetic traits that best predict a continuous phenotype of interest, while simultaneously correcting…

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

Phylogenetic trait evolution models allow for the estimation of evolutionary correlations between a set of traits observed in a sample of related organisms. By directly modeling the evolution of the traits along an estimable phylogenetic…

This paper introduces a method for studying the correlation structure of a range of responses modelled by a multivariate generalised linear mixed model (MGLMM). The methodology requires the existence of clusters of observations and that…

统计方法学 · 统计学 2021-08-02 Jeanett S. Pelck , Rodrigo Labouriau

Sparse regularized regression methods are now widely used in genome-wide association studies (GWAS) to address the multiple testing burden that limits discovery of potentially important predictors. Linear mixed models (LMMs) have become an…

统计方法学 · 统计学 2022-06-27 Julien St-Pierre , Karim Oualkacha , Sahir Rai Bhatnagar

Given genetic variations and various phenotypical traits, such as Magnetic Resonance Imaging (MRI) features, we consider two important and related tasks in biomedical research: i)to select genetic and phenotypical markers for disease…

机器学习 · 计算机科学 2013-10-17 Shandian Zhe , Zenglin Xu , Yuan Qi

Motivated by empirical arguments that are well-known from the genome-wide association studies (GWAS) literature, we study the statistical properties of linear mixed models (LMMs) applied to GWAS. First, we study the sensitivity of LMMs to…

定量方法 · 定量生物学 2021-11-09 Haohan Wang , Bryon Aragam , Eric Xing

We consider a method to jointly estimate sparse precision matrices and their underlying graph structures using dependent high-dimensional datasets. We present a penalized maximum likelihood estimator which encourages both sparsity and…

应用统计 · 统计学 2016-08-22 Adria Caballe , Natalia Bochkina , Claus Mayer

Linear mixed models (LMM) are widely adopted in genome-wide association studies (GWAS) to account for population stratification and cryptic relatedness. However, the parameter estimation of LMMs imposes substantial computational burdens due…

统计计算 · 统计学 2025-08-08 Zhibin Pu , Shufei Ge , Shijia Wang

Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing a dichotomous…

应用统计 · 统计学 2011-11-24 Bin Zhu , Allison E. Ashley-Koch , David B. Dunson

Thousands of risk variants underlying complex phenotypes (quantitative traits and diseases) have been identified in genome-wide association studies (GWAS). However, there are still two major challenges towards deepening our understanding of…

统计方法学 · 统计学 2017-10-20 Jingsi Ming , Mingwei Dai , Mingxuan Cai , Xiang Wan , Jin Liu , Can Yang

High resolution microarrays and second-generation sequencing platforms are powerful tools to investigate genome-wide alterations in DNA copy number, methylation and gene expression associated with a disease. An integrated genomic profiling…

应用统计 · 统计学 2013-04-22 Ronglai Shen , Sijian Wang , Qianxing Mo

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

统计方法学 · 统计学 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

Gaussian Graphical Models (GGMs) are widely used in high-dimensional data analysis to synthesize the interaction between variables. In many applications, such as genomics or image analysis, graphical models rely on sparsity and clustering…

机器学习 · 统计学 2026-03-25 Do Edmond Sanou , Christophe Ambroise , Geneviève Robin

Multivariate linear mixed models (mvLMMs) have been widely used in many areas of genetics, and have attracted considerable recent interest in genome-wide association studies (GWASs). However, fitting mvLMMs is computationally non-trivial,…

定量方法 · 定量生物学 2013-09-13 Xiang Zhou , Matthew Stephens

The intricate relationship between genetic variation and human diseases has been a focal point of medical research, evidenced by the identification of risk genes regarding specific diseases. The advent of advanced genome sequencing…

定量方法 · 定量生物学 2024-01-19 Jiayu Chang , Shiyu Wang , Chen Ling , Zhaohui Qin , Liang Zhao

Genome-wide association studies (GWASs) aim to detect genetic risk factors for complex human diseases by identifying disease-associated single-nucleotide polymorphisms (SNPs). The traditional SNP-wise approach along with multiple testing…

统计方法学 · 统计学 2019-09-25 Yan Xu , Li Xing , Jessica Su , Xuekui Zhang , Weiliang Qiu
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