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Although genome-wide association studies (GWAS) have proven powerful for comprehending the genetic architecture of complex traits, they are challenged by a high dimension of single-nucleotide polymorphisms (SNPs) as predictors, the presence…

应用统计 · 统计学 2015-09-15 Jiahan Li , Zhong Wang , Runze Li , Rongling Wu

Many complex disease syndromes such as asthma consist of a large number of highly related, rather than independent, clinical phenotypes, raising a new technical challenge in identifying genetic variations associated simultaneously with…

机器学习 · 统计学 2008-11-16 Seyoung Kim , Kyung-Ah Sohn , Eric P. Xing

We introduce a statistical method that can reconstruct nonlinear genetic models (i.e., including epistasis, or gene-gene interactions) from phenotype-genotype (GWAS) data. The computational and data resource requirements are similar to…

基因组学 · 定量生物学 2015-09-29 Chiu Man Ho , Stephen D. H. Hsu

In The Cancer Genome Atlas (TCGA) data set, there are many interesting nonlinear dependencies between pairs of genes that reveal important relationships and subtypes of cancer. Such genomic data analysis requires a rapid, powerful and…

应用统计 · 统计学 2022-11-30 Siqi Xiang , Wan Zhang , Siyao Liu , Katherine A. Hoadley , Charles M. Perou , Kai Zhang , J. S. Marron

Motivated by genome-wide association screening studies (GWAS), we study high-dimensional marginal screenings of categorical variables where test statistics have approximate chi-square distributions. We characterize four new phase…

统计理论 · 数学 2022-06-06 Zheng Gao

While covariance matrices have been widely studied in many scientific fields, relatively limited progress has been made on estimating conditional covariances that permits a large covariance matrix to vary with high-dimensional subject-level…

统计方法学 · 统计学 2025-05-28 Rakheon Kim , Jingfei Zhang

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

基因组学 · 定量生物学 2022-04-04 Muhammad Ammar Malik , Alexander S. Lundervold , Tom Michoel

Through genome-wide association studies (GWAS), disease susceptible genetic variables can be identified by comparing the genetic data of individuals with and without a specific disease. However, the discovery of these associations poses a…

机器学习 · 计算机科学 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

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…

基因组学 · 定量生物学 2019-07-19 Rong Jiao , Xiangning Chen , Eric Boerwinkle , Momiao Xiong

Motivation: In spite of great success of genome-wide association studies (GWAS), multiple challenges still remain. First, complex traits are often associated with many single nucleotide polymorphisms (SNPs), each with small or moderate…

Motivation: Predictive modelling of gene expression is a powerful framework for the in silico exploration of transcriptional regulatory interactions through the integration of high-throughput -omics data. A major limitation of previous…

基因组学 · 定量生物学 2018-08-14 David M Budden , Daniel G Hurley , Edmund J Crampin

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…

统计方法学 · 统计学 2020-12-15 Tianying Wang , Iuliana Ionita-Laza , Ying Wei

Identifying phenotypes plays an important role in furthering our understanding of disease biology through practical applications within healthcare and the life sciences. The challenge of dealing with the complexities and noise within…

应用统计 · 统计学 2023-04-28 Andre Vauvelle , Hamish Tomlinson , Aaron Sim , Spiros Denaxas

Annotations of gene structures and regulatory elements can inform genome-wide association studies (GWAS). However, choosing the relevant annotations for interpreting an association study of a given trait remains challenging. We describe a…

基因组学 · 定量生物学 2014-04-24 Joseph K. Pickrell

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…

机器学习 · 统计学 2024-10-01 Teodora Pandeva , Martijs Jonker , Leendert Hamoen , Joris Mooij , Patrick Forré

Motivation: Genome-wide association studies (GWAS) have identified many loci implicated in disease susceptibility. Integration of GWAS summary statistics (p values) and functional genomic datasets should help to elucidate mechanisms.…

基因组学 · 定量生物学 2014-10-17 Oliver S Burren , Hui Guo , Chris Wallace

Motivation: Genome-wide association studies (GWAS) have successfully identified thousands of genetic risk loci for complex traits and diseases. Most of these GWAS loci lie in regulatory regions of the genome and the gene through which each…

定量方法 · 定量生物学 2022-10-31 Leonardo Martini , Adriano Fazzone , Michele Gentili , Luca Becchetti , Brian Hobbs

Expression quantitative trait loci (eQTL) mapping aims to determine genomic regions that regulate gene transcription. Expression QTL is used to study the regulatory structure of normal tissues and to search for genetic factors in complex…

基因组学 · 定量生物学 2011-05-31 Andrey A. Shabalin

Background. With the increasing interest in post-GWAS research which represents a transition from genome-wide association discovery to analysis of functional mechanisms, attention has been lately focused on the potential of including…

应用统计 · 统计学 2013-03-15 Sandra Plancade , Gregory Nuel , Eiliv Lund

We present an alternative method for genome-wide association studies (GWAS) that is more powerful than the regular GWAS method for locus detection. The regular GWAS method suffers from a substantial multiple-testing burden because of the…