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Disease-gene association through Genome-wide association study (GWAS) is an arduous task for researchers. Investigating single nucleotide polymorphisms (SNPs) that correlate with specific diseases needs statistical analysis of associations.…

定量方法 · 定量生物学 2020-12-21 Sezin Kircali Ata , Min Wu , Yuan Fang , Le Ou-Yang , Chee Keong Kwoh , Xiao-Li Li

An important task in health research is to characterize time-to-event outcomes such as disease onset or mortality in terms of a potentially high-dimensional set of risk factors. For example, prospective cohort studies of Alzheimer's disease…

统计方法学 · 统计学 2024-01-12 Harrison T. Reeder , Sebastien Haneuse , Kyu Ha Lee

Combining data from several case-control genome-wide association (GWA) studies can yield greater efficiency for detecting associations of disease with single nucleotide polymorphisms (SNPs) than separate analyses of the component studies.…

统计方法学 · 统计学 2010-10-26 Ruth M. Pfeiffer , Mitchell H. Gail , David Pee

Functional brain networks are well described and estimated from data with Gaussian Graphical Models (GGMs), e.g. using sparse inverse covariance estimators. Comparing functional connectivity of subjects in two populations calls for…

机器学习 · 统计学 2016-11-21 Eugene Belilovsky , Gaël Varoquaux , Matthew B. Blaschko

Genome-wide association study (GWAS) tests single nucleotide polymorphism (SNP) markers across the genome to localize the underlying causal variant of a trait. Because causal variants are seldom observed directly, a surrogate model based on…

种群与进化 · 定量生物学 2023-03-03 Hanbin Lee , Moo Hyuk Lee

Genome-wide association studies (GWAS) suggests that a complex disease is typically affected by many genetic variants with small or moderate effects. Identification of these risk variants remains to be a very challenging problem.…

统计方法学 · 统计学 2014-01-21 Dongjun Chung , Can Yang , Cong Li , Joel Gelernter , Hongyu Zhao

Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However,…

计算工程、金融与科学 · 计算机科学 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

Motivation: Recent advances in technology for brain imaging and high-throughput genotyping have motivated studies examining the influence of genetic variation on brain structure. Wang et al. (Bioinformatics, 2012) have developed an approach…

统计方法学 · 统计学 2016-10-18 Keelin Greenlaw , Elena Szefer , Jinko Graham , Mary Lesperance , Farouk S. Nathoo

Neuroimage analysis usually involves learning thousands or even millions of variables using only a limited number of samples. In this regard, sparse models, e.g. the lasso, are applied to select the optimal features and achieve high…

机器学习 · 计算机科学 2015-03-26 Bo Xin , Lingjing Hu , Yizhou Wang , Wen Gao

Reproducibility in genome-wide association studies (GWAS) is crucial for ensuring reliable genomic research outcomes. However, limited access to original genomic datasets (mainly due to privacy concerns) prevents researchers from…

基因组学 · 定量生物学 2024-11-19 Yuzhou Jiang , Erman Ayday

The aetiology of polygenic obesity is multifactorial, which indicates that life-style and environmental factors may influence multiples genes to aggravate this disorder. Several low-risk single nucleotide polymorphisms (SNPs) have been…

基因组学 · 定量生物学 2018-08-27 Casimiro A. Curbelo Montañez , Paul Fergus , Carl Chalmers , Jade Hind

Time-series datasets are central in machine learning with applications in numerous fields of science and engineering, such as biomedicine, Earth observation, and network analysis. Extensive research exists on state-space models (SSMs),…

机器学习 · 计算机科学 2024-06-17 Emilie Chouzenoux , Victor Elvira

Genome-wide association studies(GWAS) have proven to be highly useful in revealing the genetic basis of complex diseases. At present, most GWAS are studies of a particular single disease diagnosis against controls. However, in practice, an…

基因组学 · 定量生物学 2021-01-01 Liangying Yin , Carlos Kwan-long Chau , Yu-Ping Lin , Pak-Chung Sham , Hon-Cheong So

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

Large-scale genome-wide association studies (GWAS) have offered an exciting opportunity to discover putative causal genes or risk factors associated with diseases by using SNPs as instrumental variables (IVs). However, conventional…

统计方法学 · 统计学 2023-10-27 Ben Dai , Chunlin Li , Haoran Xue , Wei Pan , Xiaotong Shen

Traditional GWAS has advanced our understanding of complex diseases but often misses nonlinear genetic interactions. Deep learning offers new opportunities to capture complex genomic patterns, yet existing methods mostly depend on feature…

机器学习 · 计算机科学 2025-07-08 Iqra Farooq , Sara Atito , Ayse Demirkan , Inga Prokopenko , Muhammad Rana

Meta-analysis of multiple genome-wide association studies (GWAS) is effective for detecting single or multi marker associations with complex traits. We develop a flexible procedure ("STAMP") based on mixture models to perform region based…

统计方法学 · 统计学 2018-01-01 Andriy Derkach , Ruth M. Pfeiffer

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

For the vast majority of genome wide association studies (GWAS) published so far, statistical analysis was performed by testing markers individually. In this article we present some elementary statistical considerations which clearly show…

应用统计 · 统计学 2010-10-04 Florian Frommlet , Felix Ruhaltinger , Piotr Twarog , Malgorzata Bogdan

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