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Complex, non-additive genetic interactions are common and can be critical in determining phenotypes. Genome-wide association studies (GWAS) and similar statistical studies of linkage data, however, assume additive models of gene…

Genomics · Quantitative Biology 2010-03-05 Nikita A. Sakhanenko , David J. Galas

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

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…

Genomics · Quantitative Biology 2018-08-27 Casimiro A. Curbelo Montañez , Paul Fergus , Carl Chalmers , Jade Hind

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,…

Quantitative Methods · Quantitative Biology 2013-09-13 Xiang Zhou , Matthew Stephens

Association testing aims to discover the underlying relationship between genotypes (usually Single Nucleotide Polymorphisms, or SNPs) and phenotypes (attributes, or traits). The typically large data sets used in association testing often…

Applications · Statistics 2012-07-04 Zhen Li , Vikneswaran Gopal , Xiaobo Li , John M. Davis , George Casella

Computational complexity is a key limitation of genomic analyses. Thus, over the last 30 years, researchers have proposed numerous fast heuristic methods that provide computational relief. Comparing genomic sequences is one of the most…

In genome wide association studies (GWAS), researchers are often dealing with non-normally distributed traits or a mixture of discrete-continuous traits. However, most of the current region-based methods rely on multivariate linear mixed…

Methodology · Statistics 2021-09-30 Julien St-Pierre , Karim Oualkacha

In many application domains, networks are observed with node-level features. In such settings, a common problem is to assess whether or not nodal covariates are correlated with the network structure itself. Here, we present four novel…

Machine Learning · Statistics 2025-09-05 Alexander Fuchs-Kreiss , Keith Levin

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…

Applications · Statistics 2017-10-12 Ryan Sun , Xihong Lin

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…

Quantitative Methods · Quantitative Biology 2021-11-09 Haohan Wang , Bryon Aragam , Eric Xing

Genetic association data from national biobanks and large-scale association studies have provided new prospects for understanding the genetic evolution of complex traits and diseases in humans. In turn, genomes from ancient human…

Populations and Evolution · Quantitative Biology 2021-08-06 Evan K. Irving-Pease , Rasa Muktupavela , Michael Dannemann , Fernando Racimo

High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

Methodology · Statistics 2017-10-20 Eric F. Lock , David B. Dunson

It is now well documented that genetic covariance between functionally related traits leads to an uneven distribution of genetic variation across multivariate trait combinations, and possibly a large part of phenotype-space that is…

Applications · Statistics 2022-10-24 Damian Pavlyshyn , Iain M. Johnstone , Jacqueline L. Sztepanacz

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…

Applications · Statistics 2014-12-23 Hua Zhou , John Blangero , Thomas D. Dyer , Kei-hang K. Chan , Kenneth Lange , Eric M. Sobel

Over the past decades, statisticians and machine-learning researchers have developed literally thousands of new tools for the reduction of high-dimensional data in order to identify the variables most responsible for a particular trait.…

Machine Learning · Statistics 2012-05-31 Chamont Wang , Jana Gevertz , Chaur-Chin Chen , Leonardo Auslender

Detecting the interactions of genetic compounds like genes, SNPs, proteins, metabolites, etc. can potentially unravel the mechanisms behind complex traits and common genetic disorders. Several methods have been taken into consideration for…

Computational Engineering, Finance, and Science · Computer Science 2015-05-26 Francesco Gadaleta

Taking advantages of high-throughput genotyping technology of single nucleotide polymorphism (SNP), large genome-wide association studies (GWASs) have been considered as the promise to unravel the complex relationships between genotypes and…

Genomics · Quantitative Biology 2018-11-20 Xuan Guo

Genetic association studies have been a popular approach for assessing the association between common Single Nucleotide Polymorphisms (SNPs) and complex diseases. However, other genomic data involved in the mechanism from SNPs to disease,…

Applications · Statistics 2014-04-28 Yen-Tsung Huang , Tyler J. VanderWeele , Xihong Lin

Generalized linear mixed-effects models in the context of genome-wide association studies (GWAS) represent a formidable computational challenge: the solution of millions of correlated generalized least-squares problems, and the processing…

Mathematical Software · Computer Science 2013-05-02 Diego Fabregat-Traver , Yurii Aulchenko , Paolo Bientinesi

Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a…

Machine Learning · Computer Science 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu