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The R package BNSP provides a unified framework for semiparametric location-scale regression and stochastic search variable selection. The statistical methodology that the package is built upon utilizes basis function expansions to…

Other Statistics · Statistics 2018-10-09 Georgios Papageorgiou

Approaches for testing sets of variants, such as a set of rare or common variants within a gene or pathway, for association with complex traits are important. In particular, set tests allow for aggregation of weak signal within a set, can…

Genomics · Quantitative Biology 2013-05-28 Jennifer Listgarten , Christoph Lippert , Eun Yong Kang , Jing Xiang , Carl M. Kadie , David Heckerman

Wilcoxon Rank-based tests are distribution-free alternatives to the popular two-sample and paired t-tests. For independent data, they are available in several R packages such as stats and coin. For clustered data, in spite of the recent…

Computation · Statistics 2017-06-13 Yujing Jiang , Xin He , Mei-Ling Ting Lee , Bernard Rosner , Jun Yan

Genome-wide association studies (GWAS) have been widely used to examine the association between single nucleotide polymorphisms (SNPs) and complex traits, where both the sample size n and the number of SNPs p can be very large. Recently,…

Methodology · Statistics 2019-03-05 Bingxin Zhao , Hongtu Zhu

We consider the problem of testing whether pairs of univariate random variables are associated. Few tests of independence exist that are consistent against all dependent alternatives and are distribution free. We propose novel tests that…

Methodology · Statistics 2014-12-09 Ruth Heller , Yair Heller , Shachar Kaufman , Malka Gorfine

Meta-analysis methods are used to combine evidence from multiple studies. Meta-regression as well as model-based meta-analysis are extensions of standard pairwise meta-analysis in which information about study-level covariates and…

Methodology · Statistics 2022-02-02 Burak Kürsad Günhan , Christian Röver , Tim Friede

Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…

Methodology · Statistics 2014-05-27 Zihuai He , Min Zhang , Xiaowei Zhan , Qing Lu

The paramount importance of replicating associations is well recognized in the genome-wide associaton (GWA) research community, yet methods for assessing replicability of associations are scarce. Published GWA studies often combine…

Methodology · Statistics 2014-04-30 Ruth Heller , Daniel Yekutieli

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

In genetic association studies, rare variants with extremely small allele frequency play a crucial role in complex traits, and the set-based testing methods that jointly assess the effects of groups of single nucleotide polymorphisms (SNPs)…

Methodology · Statistics 2020-03-13 Shonosuke Sugasawa , Hisashi Noma

Conducting research often involves managing multiple disconnected tools for survey design, data collection, response analysis, and report generation, leading to inefficiencies, increased error risks, and challenges in ensuring…

Computation · Statistics 2025-08-11 Clievins Selva

Detecting changepoints in a time series of length $N$ entails evaluating up to $2^{N-1}$ possible changepoint models, making exhaustive enumeration computationally infeasible. Genetic algorithms (GAs) provide a stochastic way to identify…

Computation · Statistics 2025-09-30 Mo Li , QiQi Lu

Sequencing-based studies are emerging as a major tool for genetic association studies of complex diseases. These studies pose great challenges to the traditional statistical methods (e.g., single-locus analyses based on regression methods)…

Methodology · Statistics 2025-08-18 Changshuai Wei , Qing Lu

In scientific studies involving analyses of multivariate data, basic but important questions often arise for the researcher: Is the sample exchangeable, meaning that the joint distribution of the sample is invariant to the ordering of the…

Methodology · Statistics 2023-08-31 Alan J. Aw , Jeffrey P. Spence , Yun S. Song

Kernel-based hypothesis tests offer a flexible, non-parametric tool to detect high-order interactions in multivariate data, beyond pairwise relationships. Yet the scalability of such tests is limited by the computationally demanding…

Methodology · Statistics 2025-06-09 Zhaolu Liu , Robert L. Peach , Mauricio Barahona

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

Chromatin immunoprecipitation combined with DNA microarrays (ChIP-chip) is an assay for DNA-protein-binding or post-translational chromatin/histone modifications. As with all high-throughput technologies, it requires a thorough…

Quantitative Methods · Quantitative Biology 2009-10-20 Benedikt Zacher , Achim Tresch

Genome-wide association studies (GWAS) suggests that a complex disease is typically affected by many genetic variants with small or moderate effects. Identification of these risk variants remains to be a very challenging problem.…

Methodology · Statistics 2014-01-21 Dongjun Chung , Can Yang , Cong Li , Joel Gelernter , Hongyu Zhao

Variations in complex traits are influenced by multiple genetic variants, environmental risk factors, and their interactions. Though substantial progress has been made in identifying single genetic variants associated with complex traits,…

Genomics · Quantitative Biology 2025-08-22 Ming Li , Ruo-Sin Peng , Changshuai Wei , Qing Lu

The precise calculation of sample sizes is a crucial aspect in the design of clinical trials particularly for pharmaceutical statisticians. While various R statistical software packages have been developed by researchers to estimate…