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Genetic association studies have been a popular approach for assessing the association between common Single Nucleotide Polymorphisms (SNPs) and complex diseases. However, other genomic data involved in the mechanism from SNPs to disease,…

Applications · Statistics 2014-04-28 Yen-Tsung Huang , Tyler J. VanderWeele , Xihong Lin

Correlation among the observations in high-dimensional regression modeling can be a major source of confounding. We present a new open-source package, plmmr, to implement penalized linear mixed models in R. This R package estimates…

Computation · Statistics 2026-05-13 Tabitha K. Peter , Anna C. Reisetter , Yujing Lu , Oscar A. Rysavy , Patrick J. Breheny

We introduce PolyLinkR, an R package for gene set enrichment analysis that implements a novel null-model that accounts for linkage disequilibrium between genes belonging to the same gene set - a potential cause of false positives that is…

Genomics · Quantitative Biology 2020-04-08 Raymond Tobler , Angad Johar , Christian Huber , Yassine Souilmi

The effective visualization of genomic data is crucial for exploring and interpreting complex relationships within and across genes and genomes. Despite advances in developing dedicated bioinformatics software, common visualization tools…

Genomics · Quantitative Biology 2024-11-22 Thomas Hackl , Markus Ankenbrand , Bart van Adrichem , David Wilkins , Kristina Haslinger

We introduce a test for the overall effect of interaction between DNA methylation and a set of single nucleotide polymorphisms (SNPs) on a quantitative phenotype. The developed inference procedure is based on a functional approach that…

Methodology · Statistics 2026-01-28 Yvelin Gansou , Karim Oualkacha , Marzia Angela Cremona , Lajmi Lakhal-Chaieb

Longitudinal biomarkers are frequently collected in clinical studies due to their strong association with time-to-event outcomes. While considerable progress has been made in methods for jointly modeling longitudinal and survival data,…

Methodology · Statistics 2026-02-18 Yuan Bian , Shelley B. Bull

Principal component analysis (PCA) is routinely used in population genetics to assess genetic structure. With chromosomal reference genomes and population-scale whole genome-sequencing becoming increasingly accessible, contemporary studies…

Populations and Evolution · Quantitative Biology 2025-01-22 L. Moritz Blumer , Jeffrey M. Good , Richard Durbin

Studying the effects of groups of Single Nucleotide Polymorphisms (SNPs), as in a gene, genetic pathway, or network, can provide novel insight into complex diseases, above that which can be gleaned from studying SNPs individually. Common…

Applications · Statistics 2017-10-12 Ryan Sun , Xihong Lin

Reliable tools and software for penetrance (age-specific risk among those who carry a genetic variant) estimation are critical to improving clinical decision making and risk assessment for hereditary syndromes. We introduce penetrance, an…

Computation · Statistics 2025-03-28 Nicolas Kubista , Danielle Braun , Giovanni Parmigiani

Gene-based testing is a commonly employed strategy in many genetic association studies. Gene-trait associations can be complex due to underlying population heterogeneity, gene-environment interactions, and various other reasons. Existing…

Methodology · Statistics 2020-12-15 Tianying Wang , Iuliana Ionita-Laza , Ying Wei

When testing for the association of a single SNP with a phenotypic response, one usually considers an additive genetic model, assuming that the mean of of the response for the heterozygous state is the average of the means for the two…

Methodology · Statistics 2025-01-07 Dominic Edelmann , Fernando Castro-Prado , Jelle J. Goeman

This letter introduced a new R package 'coexist' which can perform species coexistence simulation and analysis. The package was initially developed for understanding the role of different combinations of varying species growth rates,…

Populations and Evolution · Quantitative Biology 2014-04-11 Youhua Chen

There has been a tremendous methodological development of Bayes factors for hypothesis testing in the social and behavioral sciences, and related fields. This development is due to the flexibility of the Bayes factor for testing multiple…

A daunting challenge faced by modern biological sciences is finding an efficient and computationally feasible approach to deal with the curse of high dimensionality. The problem becomes even more severe when the research focus is on…

Methodology · Statistics 2013-04-16 Hung Hung , Yu-Tin Lin , Pengwen Chen , Chen-Chien Wang , Su-Yun Huang , Jung-Ying Tzeng

Genetic variants identified to date by genome-wide association studies only explain a small fraction of total heritability. Gene-by-gene interaction is one important potential source of unexplained heritability. In the first part of this…

Methodology · Statistics 2016-05-10 Chen Lu

For the vast majority of genome wide association studies (GWAS) published so far, statistical analysis was performed by testing markers individually. In this article we present some elementary statistical considerations which clearly show…

Applications · Statistics 2010-10-04 Florian Frommlet , Felix Ruhaltinger , Piotr Twarog , Malgorzata Bogdan

It has been shown that a random-effects framework can be used to test the association between a gene's expression level and the number of DNA copies of a set of genes. This gene-set modelling framework was later applied to find associations…

Methodology · Statistics 2015-10-09 Renée Menezes , Leila Mohammadi , Jelle Goeman , Judith Boer

Detection of interactions between treatment effects and patient descriptors in clinical trials is critical for optimizing the drug development process. The increasing volume of data accumulated in clinical trials provides a unique…

Applications · Statistics 2017-12-25 Baptiste Goujaud , Eric W. Tramel , Pierre Courtiol , Mikhail Zaslavskiy , Gilles Wainrib

We consider the problems of hypothesis testing and model comparison under a flexible Bayesian linear regression model whose formulation is closely connected with the linear mixed effect model and the parametric models for SNP set analysis…

Methodology · Statistics 2015-02-24 Xiaoquan Wen

Genome-wide association study (GWAS) tests single nucleotide polymorphism (SNP) markers across the genome to localize the underlying causal variant of a trait. Because causal variants are seldom observed directly, a surrogate model based on…

Populations and Evolution · Quantitative Biology 2023-03-03 Hanbin Lee , Moo Hyuk Lee