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A critical problem in genetics is to discover how gene expression is regulated within cells. Two major tasks of regulatory association learning are : (i) identifying SNP-gene relationships, known as eQTL mapping, and (ii) determining…

Machine Learning · Statistics 2023-01-06 Wei Miao , Lan Yao

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…

Methodology · Statistics 2019-09-25 Yan Xu , Li Xing , Jessica Su , Xuekui Zhang , Weiliang Qiu

We consider the problem of estimating a sparse multi-response regression function, with an application to expression quantitative trait locus (eQTL) mapping, where the goal is to discover genetic variations that influence gene-expression…

Machine Learning · Statistics 2012-10-01 Seyoung Kim , Eric P. Xing

In generalized linear regression problems with an abundant number of features, lasso-type regularization which imposes an $\ell^1$-constraint on the regression coefficients has become a widely established technique. Deficiencies of the…

Applications · Statistics 2010-11-11 Martin Slawski , Wolfgang zu Castell , Gerhard Tutz

Lasso is a popular and efficient approach to simultaneous estimation and variable selection in high-dimensional regression models. In this paper, a robust LAD-lasso method for multiple outcomes is presented that addresses the challenges of…

Methodology · Statistics 2022-12-02 Jyrki Möttönen , Tero Lähderanta , Janne Salonen , Mikko J. Sillanpää

Motivation: Genome-Wide Association Studies (GWAS) seek to identify causal genomic variants associated with rare human diseases. The classical statistical approach for detecting these variants is based on univariate hypothesis testing, with…

Methodology · Statistics 2018-10-22 Florent Guinot , Marie Szafranski , Christophe Ambroise , Franck Samson

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…

Methodology · Statistics 2018-11-28 Luke J. O'Connor , Alkes L. Price

The LASSO-Patternsearch algorithm is proposed to efficiently identify patterns of multiple dichotomous risk factors for outcomes of interest in demographic and genomic studies. The patterns considered are those that arise naturally from the…

Statistics Theory · Mathematics 2008-03-07 Weiliang Shi , Grace Wahba , Stephen Wright , Kristine Lee , Ronald Klein , Barbara Klein

To date, most genetic analyses of phenotypes have focused on analyzing single traits or, analyzing each phenotype independently. However, joint epistasis analysis of multiple complementary traits will increase statistical power, and hold…

Genomics · Quantitative Biology 2015-12-04 Futao Zhang , Dan Xie , Meimei Liang , Momiao Xiong

Graphical Gaussian models are popular tools for the estimation of (undirected) gene association networks from microarray data. A key issue when the number of variables greatly exceeds the number of samples is the estimation of the matrix of…

Methodology · Statistics 2010-08-13 Nicole Kraemer , Juliane Schaefer , Anne-Laure Boulesteix

Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so…

Genomics · Quantitative Biology 2019-07-19 Rong Jiao , Xiangning Chen , Eric Boerwinkle , Momiao Xiong

Since the emergence of genome-wide association studies (GWASs), estimation of the narrow sense heritability explained by common single-nucleotide polymorphisms (SNPs) via linear mixed model approaches became widely used. As in most GWASs,…

Methodology · Statistics 2015-07-31 Najla Saad Elhezzani

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

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…

Machine Learning · Computer Science 2025-07-08 Iqra Farooq , Sara Atito , Ayse Demirkan , Inga Prokopenko , Muhammad Rana

Gallstone disease is a complex, multifactorial condition with significant global health burdens. Identifying underlying risk factors and their interactions is crucial for early diagnosis, targeted prevention, and effective clinical…

Applications · Statistics 2025-06-18 Chitradipa Chakraborty , Nayana Mukherjee

We consider the estimation of regression models on strata defined using a categorical covariate, in order to identify interactions between this categorical covariate and the other predictors. A basic approach requires the choice of a…

Statistics Theory · Mathematics 2016-11-09 Edouard Ollier , Vivian Viallon

Sparse linear regression is a central problem in high-dimensional statistics. We study the correlated random design setting, where the covariates are drawn from a multivariate Gaussian $N(0,\Sigma)$, and we seek an estimator with small…

Data Structures and Algorithms · Computer Science 2023-05-29 Jonathan Kelner , Frederic Koehler , Raghu Meka , Dhruv Rohatgi

Imbalanced regression arises when the target distribution is skewed, causing models to focus on dense regions and struggle with underrepresented (minority) samples. Despite its relevance across many applications, few methods have been…

Machine Learning · Computer Science 2025-08-05 Shayan Alahyari , Shiva Mehdipour Ghobadlou , Mike Domaratzki

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

Modeling and drawing inference on the joint associations between single nucleotide polymorphisms and a disease has sparked interest in genome-wide associations studies. In the motivating Boston Lung Cancer Survival Cohort (BLCSC) data, the…

Methodology · Statistics 2021-11-18 Lu Xia , Bin Nan , Yi Li