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Replication helps ensure that a genotype-phenotype association observed in a genome-wide association (GWA) study represents a credible association and is not a chance finding or an artifact due to uncontrolled biases. We discuss…

Methodology · Statistics 2010-10-26 Peter Kraft , Eleftheria Zeggini , John P. A. Ioannidis

In many longitudinal microarray studies, the gene expression levels in a random sample are observed repeatedly over time under two or more conditions. The resulting time courses are generally very short, high-dimensional, and may have…

Applications · Statistics 2013-02-26 Maurice Berk , Cheryl Hemingway , Michael Levin , Giovanni Montana

Genome-wide association studies (GWAS) have successfully identified a large number of genetic variants associated with traits and diseases. However, it still remains challenging to fully understand functional mechanisms underlying many…

Genomics · Quantitative Biology 2022-04-15 Qiaolan Deng , Jin Hyun Nam , Ayse Selen Yilmaz , Won Chang , Maciej Pietrzak , Lang Li , Hang J. Kim , Dongjun Chung

Over time, clinical trials have increasingly incorporated complex design and analysis elements such as interim analyses, adaptations, multiple endpoints, and sophisticated multiplicity schemes for multiple endpoints and/or treatment arms…

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

Score-based tests have been used to study parameter heterogeneity across many types of statistical models. This chapter describes a new self-normalization approach for score-based tests of mixed models, which addresses situations where…

Methodology · Statistics 2023-06-13 Ting Wang , Edgar Merkle

Next-generation sequencing technologies now constitute a method of choice to measure gene expression. Data to analyze are read counts, commonly modeled using Negative Binomial distributions. A relevant issue associated with this…

Methodology · Statistics 2014-11-10 Elisabetta Bonafede , Franck Picard , Stéphane Robin , Cinzia Viroli

In Genome-Wide Association Studies (GWAS) where multiple correlated traits have been measured on participants, a joint analysis strategy, whereby the traits are analyzed jointly, can improve statistical power over a single-trait analysis…

Methodology · Statistics 2018-07-30 Xingjie Shi , Yuling Jiao , Yi Yang , Ching-Yu Cheng , Can Yang , Xinyi Lin , Jin Liu

The lack of non-parametric statistical tests for confounding bias significantly hampers the development of robust, valid and generalizable predictive models in many fields of research. Here I propose the partial and full confounder tests,…

Machine Learning · Computer Science 2025-05-30 Tamas Spisak

Genetic data are frequently categorical and have complex dependence structures that are not always well understood. For this reason, clustering and classification based on genetic data, while highly relevant, are challenging statistical…

Methodology · Statistics 2016-06-13 Gabriela Bettella Cybis , Marcio Valk , Silvia Regina Costa Lopes

Multivariate association analysis is of primary interest in many applications. Despite the prevalence of high-dimensional and non-Gaussian data (such as count-valued or binary), most existing methods only apply to low-dimensional data with…

Methodology · Statistics 2021-04-01 Gen Li , Irina Gaynanova

In genetic association studies, detecting phenotype-genotype association is a primary goal. We assume that the relationship between the data -phenotype, genetic markers and environmental covariates - can be modelled by a generalized linear…

Methodology · Statistics 2020-04-13 K. K. Halle , Ø. Bakke , S. Djurovic , A. Bye , E. Ryeng , U. Wisløff , O. A. Andreassen , M. Langaas

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

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

Latent variable models are popularly used to measure latent factors (e.g., abilities and personalities) from large-scale assessment data. Beyond understanding these latent factors, the covariate effect on responses controlling for latent…

Methodology · Statistics 2026-01-12 Jing Ouyang , Chengyu Cui , Kean Ming Tan , Gongjun Xu

Cross-level interactions among fixed effects in linear mixed models (also known as multilevel models) are often complicated by the variances stemming from random effects and residuals. When these variances change across clusters, tests of…

Methodology · Statistics 2022-03-18 Ting Wang , Edgar C. Merkle , Joaquin A. Anguera , Brandon M. Turner

In this paper, our interest is in the problem of simultaneous hypothesis testing when the test statistics corresponding to the individual hypotheses are possibly correlated. Specifically, we consider the case when the test statistics…

Statistics Theory · Mathematics 2019-01-14 Anupam Kundu , Subir Kumar Bhandari

Gene-gene interactions have long been recognized to be fundamentally important to understand genetic causes of complex disease traits. At present, identifying gene-gene interactions from genome-wide case-control studies is computationally…

Genomics · Quantitative Biology 2010-01-29 Xiang Wan , Can Yang , Qiang Yang , Hong Xue , Xiaodan Fan , Nelson L. S. Tang , Weichuan Yu

Genome-wide association studies(GWAS) have proven to be highly useful in revealing the genetic basis of complex diseases. At present, most GWAS are studies of a particular single disease diagnosis against controls. However, in practice, an…

Genomics · Quantitative Biology 2021-01-01 Liangying Yin , Carlos Kwan-long Chau , Yu-Ping Lin , Pak-Chung Sham , Hon-Cheong So

The Gene Ontology (GO) is a major bioinformatics ontology that provides structured controlled vocabularies to classify gene and proteins function and role. The GO and its annotations to gene products are now an integral part of functional…

Quantitative Methods · Quantitative Biology 2017-01-02 Pietro Hiram Guzzi , Giuseppe Agapito , Marianna Milano , Mario Cannataro
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