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Exploring the genetic basis of heritable traits remains one of the central challenges in biomedical research. In simple cases, single polymorphic loci explain a significant fraction of the phenotype variability. However, many traits of…

Populations and Evolution · Quantitative Biology 2015-03-20 Barbara Rakitsch , Christoph Lippert , Oliver Stegle , Karsten Borgwardt

We present Collaborative Trees, a novel tree model designed for regression prediction, along with its bagging version, which aims to analyze complex statistical associations between features and uncover potential patterns inherent in the…

Methodology · Statistics 2024-05-21 Chien-Ming Chi

The link between different psychophysiological measures during emotion episodes is not well understood. To analyse the functional relationship between electroencephalography (EEG) and facial electromyography (EMG), we apply historical…

Applications · Statistics 2017-05-16 David Rügamer , Sarah Brockhaus , Kornelia Gentsch , Klaus Scherer , Sonja Greven

Epistasis can be defined as the statistical interaction of genes during the expression of a phenotype. It is believed that it plays a fundamental role in gene expression, as individual genetic variants have reported a very small increase in…

Distributed, Parallel, and Cluster Computing · Computer Science 2022-03-09 Christian Ponte-Fernández , Jorge González-Domínguez , María J. Martín

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

Unraveling the co-expression of genes across studies enhances the understanding of cellular processes. Inferring gene co-expression networks from transcriptome data presents many challenges, including spurious gene correlations, sample…

Machine Learning · Statistics 2024-10-01 Teodora Pandeva , Martijs Jonker , Leendert Hamoen , Joris Mooij , Patrick Forré

Detailed phenotype information is fundamental to accurate diagnosis and risk estimation of diseases. As a rich source of phenotype information, electronic health records (EHRs) promise to empower diagnostic variant interpretation. However,…

Machine Learning · Computer Science 2023-04-28 Shenghan Zhang , Haoxuan Li , Ruixiang Tang , Sirui Ding , Laila Rasmy , Degui Zhi , Na Zou , Xia Hu

Gene expression and DNA methylation are two interconnected biological processes and understanding their relationship is important in advancing understanding in diverse areas, including disease pathogenesis, environmental adaptation,…

Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are…

Methodology · Statistics 2017-06-20 Sihai Dave Zhao

Physical activity is crucial for human health. With the increasing availability of large-scale mobile health data, strong associations have been found between physical activity and various diseases. However, accurately capturing this…

Applications · Statistics 2025-01-03 Xiaojing Sun , Bingxin Zhao , Fei Xue

Multivariate linear mixed models (mvLMMs) have been widely used in many areas of genetics, and have attracted considerable recent interest in genome-wide association studies (GWASs). However, fitting mvLMMs is computationally non-trivial,…

Quantitative Methods · Quantitative Biology 2013-09-13 Xiang Zhou , Matthew Stephens

Gene interaction graphs aim to capture various relationships between genes and represent decades of biology research. When trying to make predictions from genomic data, those graphs could be used to overcome the curse of dimensionality by…

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

Mapping genotypes to phenotypes (G2P) is a fundamental goal in biology. So called PhyloG2P methods are a relatively new set of tools that leverage replicated evolution in phylogenetically independent lineages to identify genomic regions…

Populations and Evolution · Quantitative Biology 2025-10-20 Arlie R. Macdonald , Maddie E. James , Jonathan D. Mitchell , Barbara R. Holland

This R package evaluates main and pair-wise interaction effect of single nucleotide polymorphisms (SNPs) via the W-test, scalable to whole genome-wide data sets. The package provides fast and accurate p-value estimation of genetic markers,…

Computation · Statistics 2016-10-12 Rui Sun , Billy Chang , Benny Chung-Ying Zee , Maggie Haitian Wang

High-dimensional biomarkers such as genomics are increasingly being measured in randomized clinical trials. Consequently, there is a growing interest in developing methods that improve the power to detect biomarker-treatment interactions.…

Methodology · Statistics 2021-04-30 Jixiong Wang , Ashish Patel , James M. S. Wason , Paul J. Newcombe

In clinical practice, electroencephalography (EEG) plays an important role in the diagnosis of epilepsy. EEG-based computer-aided diagnosis of epilepsy can greatly improve the ac-curacy of epilepsy detection while reducing the workload of…

Signal Processing · Electrical Eng. & Systems 2026-03-24 Andong Li , Zhaohong Deng , Qiongdan Lou

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

By integrating heterogeneous functional genomic datasets, we have developed a new framework for detecting combinatorial control of gene expression, which includes estimating transcription factor activities using a singular value…

Quantitative Methods · Quantitative Biology 2010-10-07 Junbai Wang

Mapping expression Quantitative Trait Loci (eQTLs) represents a powerful and widely-adopted approach to identifying putative regulatory variants and linking them to specific genes. Up to now eQTL studies have been conducted in a relatively…

Quantitative Methods · Quantitative Biology 2013-08-12 Timothée Flutre , Xiaoquan Wen , Jonathan Pritchard , Matthew Stephens