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Genome-wide association studies (GWAS) are widely used to discover genetic variants associated with diseases. To control false positives, all findings from GWAS need to be verified with additional evidences, even for associations discovered…

Genomics · Quantitative Biology 2026-03-12 Wei Jiang , Jing-Hao Xue , Weichuan Yu

We consider integrative modeling of multiple gene networks and diverse genomic data, including protein-DNA binding, gene expression and DNA sequence data, to accurately identify the regulatory target genes of a transcription factor (TF).…

Applications · Statistics 2012-03-21 Peng Wei , Wei Pan

Multi-view datasets offer diverse forms of data that can enhance prediction models by providing complementary information. However, the use of multi-view data leads to an increase in high-dimensional data, which poses significant challenges…

Neural and Evolutionary Computing · Computer Science 2024-03-05 Vandad Imani , Carlos Sevilla-Salcedo , Elaheh Moradi , Vittorio Fortino , Jussi Tohka

Common complex diseases are likely influenced by the interplay of hundreds, or even thousands, of genetic variants. Converging evidence shows that genetic variants with low marginal effects (LME) play an important role in disease…

Quantitative Methods · Quantitative Biology 2025-08-18 Changshuai Wei , Daniel J. Schaid , Qing Lu

In the search for genetic factors that are associated with complex heritable human traits, considerable attention is now being focused on rare variants that individually have small effects. In response, numerous recent papers have proposed…

Methodology · Statistics 2014-09-10 Andriy Derkach , Jerry F. Lawless , Lei Sun

Genome-Wide Association Studies (GWAS) help identify genetic variations in people with diseases such as Parkinson's disease (PD), which are less common in those without the disease. Thus, GWAS data can be used to identify genetic variations…

Genomics · Quantitative Biology 2023-04-07 Ali Amelia , Lourdes Pena-Castillo , Hamid Usefi

Genome-wide association studies have become increasingly common due to advances in technology and have permitted the identification of differences in single nucleotide polymorphism (SNP) alleles that are associated with diseases. However,…

Quantitative Methods · Quantitative Biology 2015-09-24 Rosemary Braun , Kenneth Buetow

Genome-Wide Association Studies (GWAS) offer an exciting and promising new research avenue for finding genes for complex diseases. Traditional case-control and cohort studies offer many advantages for such designs. Family-based association…

Methodology · Statistics 2010-10-25 Nan M. Laird , Christoph Lange

Understanding the relationships between different properties of data, such as whether a connectome or genome has information about disease status, is becoming increasingly important in modern biological datasets. While existing approaches…

Machine Learning · Statistics 2024-06-27 Joshua T. Vogelstein , Eric Bridgeford , Qing Wang , Carey E. Priebe , Mauro Maggioni , Cencheng Shen

The prevailing method of analyzing GWAS data is still to test each marker individually, although from a statistical point of view it is quite obvious that in case of complex traits such single marker tests are not ideal. Recently several…

Applications · Statistics 2015-06-19 Erich Dolejsi , Bernhard Bodenstorfer , Florian Frommlet

To understand how genetic variants in human genomes manifest in phenotypes -- traits like height or diseases like asthma -- geneticists have sequenced and measured hundreds of thousands of individuals. Geneticists use this data to build…

Machine Learning · Computer Science 2025-07-01 Alan N. Amin , Andres Potapczynski , Andrew Gordon Wilson

Inferring predictive maps between multiple input and multiple output variables or tasks has innumerable applications in data science. Multi-task learning attempts to learn the maps to several output tasks simultaneously with information…

Machine Learning · Statistics 2017-10-06 Ming Yu , Addie M. Thompson , Karthikeyan Natesan Ramamurthy , Eunho Yang , Aurélie C. Lozano

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

We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…

Applications · Statistics 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

In genome-wide association studies (GWASs) of common diseases/traits, we often analyze multiple GWASs with the same phenotype together to discover associated genetic variants with higher power. Since it is difficult to access data with…

Genomics · Quantitative Biology 2026-03-12 Wei Jiang , Weichuan Yu

We provide a view on high-dimensional statistical inference for genome-wide association studies (GWAS). It is in part a review but covers also new developments for meta analysis with multiple studies and novel software in terms of an…

Applications · Statistics 2020-02-17 Claude Renaux , Laura Buzdugan , Markus Kalisch , Peter Bühlmann

In genome-wide association (GWA) studies the goal is to detect association between one or more genetic markers and a given phenotype. The number of genetic markers in a GWA study can be in the order hundreds of thousands and therefore…

Methodology · Statistics 2016-12-22 Kari Krizak Halle , Srdjan Djurovic , Ole Andreas Andreassen , Mette Langaas

Investigating the genetic architecture of complex diseases is challenging due to the multifactorial and interactive landscape of genomic and environmental influences. Although genome-wide association studies (GWAS) have identified thousands…

Genomics · Quantitative Biology 2025-02-12 Burak Yelmen , Maris Alver , Merve Nur Güler , Estonian Biobank Research Team , Flora Jay , Lili Milani

Using brain imaging quantitative traits (QTs) to identify the genetic risk factors is an important research topic in imaging genetics. Many efforts have been made via building linear models, e.g. linear regression (LR), to extract the…

Many common diseases are highly polygenic, modulated by a large number genetic factors with small effects on susceptibility to disease. These small effects are difficult to map reliably in genetic association studies. To address this…

Quantitative Methods · Quantitative Biology 2012-08-23 Peter Carbonetto , Matthew Stephens