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Because of the recent advances of genome sequences, a large number of human genome sequences are available for the study of human genetics. Genome-wide association studies typically focus on associations between single-nucleotide…

Populations and Evolution · Quantitative Biology 2019-10-11 Kazuharu Misawa

In linear regression models with non-Gaussian errors, transformations of the response variable are widely used in a broad range of applications. Motivated by various genetic association studies, transformation methods for hypothesis testing…

Methodology · Statistics 2025-07-10 Yaowu Liu , Tianying Wang

Global hypothesis tests are a useful tool in the context of, e.g, clinical trials, genetic studies or meta analyses, when researchers are not interested in testing individual hypotheses, but in testing whether none of the hypotheses is…

Methodology · Statistics 2017-09-05 Andreas Futschik , Thomas Taus , Sonja Zehetmayer

Currently, two main approaches exist to distinguish differential susceptibility from diathesis-stress and vantage sensitivity in genotype x environment interaction (GxE) research: Regions of significance (RoS) and competitive-confirmatory…

Recent technological advances have made it possible to collect high-dimensional genomic data along with clinical data on a large number of subjects. In the studies of chronic diseases such as cancer, it is of great interest to integrate…

Methodology · Statistics 2020-11-03 Hoi Min Ng , Binyan Jiang , Kin Yau Wong

A large number of recent genome-wide association studies (GWASs) for complex phenotypes confirm the early conjecture for polygenicity, suggesting the presence of large number of variants with only tiny or moderate effects. However, due to…

Genomics · Quantitative Biology 2018-05-01 Mingwei Dai , Xiang Wan , Hao Peng , Yao Wang , Yue Liu , Jin Liu , Zongben Xu , Can Yang

The Genotype-Tissue Expression (GTEx) project collects samples from multiple human tissues to study the relationship between genetic variation or single nucleotide polymorphisms (SNPs) and gene expression in each tissue. However, most…

Methodology · Statistics 2022-11-28 Fei Xue , Hongzhe Li

Treatment-covariate interaction tests are commonly applied by researchers to examine whether the treatment effect varies across patient subgroups defined by baseline characteristics. The objective of this study is to explore…

Methodology · Statistics 2024-03-12 Likun Zhang , Wei Ma

We propose a novel and easy-to-implement joint location-scale association testing procedure that can account for complex genetic architecture without explicitly modeling interaction effects, and is suitable for large-scale whole-genome…

Methodology · Statistics 2014-11-14 David Soave , Andrew Paterson , Lisa Strug , Lei Sun

Pairwise interactions between perturbations to a system can provide evidence for the causal dependencies of the underlying underlying mechanisms of a system. When observations are low dimensional, hand crafted measurements, detecting…

Machine Learning · Computer Science 2024-09-13 Zuheng , Xu , Moksh Jain , Ali Denton , Shawn Whitfield , Aniket Didolkar , Berton Earnshaw , Jason Hartford

Identifying individuals who are at high risk of cancer due to inherited germline mutations is critical for effective implementation of personalized prevention strategies. Most existing models to identify these individuals focus on specific…

Genome-wide association analysis has generated much discussion about how to preserve power to detect signals despite the detrimental effect of multiple testing on power. We develop a weighted multiple testing procedure that facilitates the…

Statistics Theory · Mathematics 2007-06-13 Kathryn Roeder , Bernie Devlin , Larry Wasserman

Genome-wide association studies generate very large datasets that require scalable analysis algorithms. In this report we describe the GEDI software package, which implements efficient algorithms for performing several common tasks in the…

Data Structures and Algorithms · Computer Science 2016-09-08 Justin Kennedy , Ion I. Mandoiu , Bogdan Pasaniuc

Although several nonparametric tests are available for testing population identical distributions or equal means in multiple groups problem, the Van der Waerden test has asymptotically the same efficiency as the classical one-way analysis…

Methodology · Statistics 2022-03-07 Elsayed Elamir

The synthpop package for R https://www.synthpop.org.uk provides tools to allow data custodians to create synthetic versions of confidential microdata that can be distributed with fewer restrictions than the original. The synthesis can be…

Computation · Statistics 2021-11-16 Gillian M Raab , Beata Nowok , Chris Dibben

We consider a setting in which we have a treatment and a large number of covariates for a set of observations, and wish to model their relationship with an outcome of interest. We propose a simple method for modeling interactions between…

Methodology · Statistics 2012-12-14 Lu Tian , Ash Alizadeh , Andrew Gentles , Robert Tibshirani

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…

Genomics · Quantitative Biology 2024-11-19 Yuzhou Jiang , Erman Ayday

It is widely recognized nowadays that complex diseases are caused by, amongst the others, multiple genetic factors. The recent advent of genome-wide association study (GWA) has triggered a wave of research aimed at discovering genetic…

Applications · Statistics 2011-09-30 Nguyen Xuan Vinh

In modern scientific studies, it is often imperative to determine whether a set of phenotypes is affected by a single factor. If such an influence is identified, it becomes essential to discern whether this effect is contingent upon…

Methodology · Statistics 2024-03-22 Srijan Chattopadhyay , Swapnaneel Bhattacharyya , Sevantee Basu

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