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GWAS in humans are revealing the genetic architecture of biomedical and anthropomorphic traits, i.e., the frequencies and effect sizes of variants that contribute to heritable variation in a trait. To interpret these findings, we need to…

Populations and Evolution · Quantitative Biology 2018-03-29 Yuval B. Simons , Kevin Bullaughey , Richard R. Hudson , Guy Sella

Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-trait associations, but most of these variants are located…

Molecular Networks · Quantitative Biology 2024-11-01 Marc Subirana-Granés , Jill Hoffman , Haoyu Zhang , Christina Akirtava , Sutanu Nandi , Kevin Fotso , Milton Pividori

Understanding the genetic underpinnings of complex traits and diseases has been greatly advanced by genome-wide association studies (GWAS). However, a significant portion of trait heritability remains unexplained, known as ``missing…

Genomics · Quantitative Biology 2024-09-05 Samhita Pal , Xinge Jessie Jeng

Rooted in genetics, human complex diseases are largely influenced by environmental factors. Existing literature has shown the power of integrative gene-environment interaction analysis by considering the joint effect of environmental…

Methodology · Statistics 2022-08-26 Jingyi Zhang , Xu Liu , Honglang Wang , Yuehua Cui

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…

Methodology · Statistics 2022-06-27 Julien St-Pierre , Karim Oualkacha , Sahir Rai Bhatnagar

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.…

Methodology · Statistics 2010-10-26 Ruth M. Pfeiffer , Mitchell H. Gail , David Pee

Genetic association analyses often involve data from multiple potentially-heterogeneous subgroups. The expected amount of heterogeneity can vary from modest (e.g., a typical meta-analysis) to large (e.g., a strong gene--environment…

Methodology · Statistics 2014-04-15 Xiaoquan Wen , Matthew Stephens

Polygenic risk scores (PRS) developed from genome-wide association studies (GWAS) can be used for risk stratification by quantifying the genetic contribution to disease, and many clinical applications have been proposed. Bayesian methods…

Methodology · Statistics 2026-03-11 Yuzheng Dun , Nilanjan Chatterjee , Jin Jin , Akihiko Nishimura

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…

Methodology · Statistics 2018-01-01 Andriy Derkach , Ruth M. Pfeiffer

In genome-wide association studies (GWAS), penalization is an important approach for identifying genetic markers associated with trait while mixed model is successful in accounting for a complicated dependence structure among samples.…

Methodology · Statistics 2013-05-21 Jin Liu , Can Yang , Xingjie Shi , Cong Li , Jian Huang , Hongyu Zhao , Shuangge Ma

The aim of this paper is to propose a novel estimation method of using genetic-predicted observations to estimate trans-ancestry genetic correlations, which describes how genetic architecture of complex traits varies among populations, in…

Methodology · Statistics 2022-03-24 Bingxin Zhao , Xiaochen Yang , Hongtu Zhu

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…

Machine Learning · Computer Science 2013-10-17 Shandian Zhe , Zenglin Xu , Yuan Qi

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…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

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…

Populations and Evolution · Quantitative Biology 2023-03-03 Hanbin Lee , Moo Hyuk Lee

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…

Methodology · Statistics 2016-10-18 Keelin Greenlaw , Elena Szefer , Jinko Graham , Mary Lesperance , Farouk S. Nathoo

Transcriptome-wide association studies (TWAS) link genetic variation to complex traits by leveraging expression quantitative trait loci (eQTL) data. However, most implementations are typically limited to local (cis-acting) effects and fail…

Molecular Networks · Quantitative Biology 2025-12-09 Gutama Ibrahim Mohammad , Johan LM Björkegren , Tom Michoel

Gene-environment (G$\times$E) interactions have important implications to elucidate the etiology of complex diseases beyond the main genetic and environmental effects. Outliers and data contamination in disease phenotypes of G$\times$E…

Methodology · Statistics 2020-06-11 Jie Ren , Fei Zhou , Xiaoxi Li , Shuangge Ma , Yu Jiang , Cen Wu

Genome-wide association studies, in which as many as a million single nucleotide polymorphisms (SNP) are measured on several thousand samples, are quickly becoming a common type of study for identifying genetic factors associated with many…

Methodology · Statistics 2010-10-25 Charles Kooperberg , Michael LeBlanc , James Y. Dai , Indika Rajapakse

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…

The variance component tests used in genomewide association studies of thousands of individuals become computationally exhaustive when multiple traits are analysed in the context of omics studies. We introduce two high-throughput algorithms…

Computational Engineering, Finance, and Science · Computer Science 2012-11-13 Diego Fabregat-Traver , Yurii S. Aulchenko , Paolo Bientinesi