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Summary statistics of genome-wide association studies (GWAS) teach causal relationship between millions of genetic markers and tens and thousands of phenotypes. However, underlying biological mechanisms are yet to be elucidated. We can…

机器学习 · 统计学 2019-01-25 Yongjin Park , Abhishek Sarkar , Khoi Nguyen , Manolis Kellis

Multi-view data, that is matched sets of measurements on the same subjects, have become increasingly common with advances in multi-omics technology. Often, it is of interest to find associations between the views that are related to the…

机器学习 · 统计学 2020-10-02 Yunfeng Zhang , Irina Gaynanova

Linkage disequilibrium score regression (LDSC) has emerged as an essential tool for genetic and genomic analyses of complex traits, utilizing high-dimensional data derived from genome-wide association studies (GWAS). LDSC computes the…

统计方法学 · 统计学 2025-04-16 Fei Xue , Bingxin Zhao

Genome-wide association studies (GWAS) are widely used to discover genetic variants associated with diseases. To control false positives, all findings from GWAS need to be verified with additional evidences, even for associations discovered…

基因组学 · 定量生物学 2026-03-12 Wei Jiang , Jing-Hao Xue , Weichuan Yu

High dimensional case control studies are ubiquitous in the biological sciences, particularly genomics. To maximise power while constraining cost and to minimise type-1 error rates, researchers typically seek to replicate findings in a…

统计方法学 · 统计学 2017-07-11 James Liley

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,…

定量方法 · 定量生物学 2013-09-13 Xiang Zhou , Matthew Stephens

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

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,…

基因组学 · 定量生物学 2025-08-22 Ming Li , Ruo-Sin Peng , Changshuai Wei , Qing Lu

Motivated by empirical arguments that are well-known from the genome-wide association studies (GWAS) literature, we study the statistical properties of linear mixed models (LMMs) applied to GWAS. First, we study the sensitivity of LMMs to…

定量方法 · 定量生物学 2021-11-09 Haohan Wang , Bryon Aragam , Eric Xing

High resolution microarrays and second-generation sequencing platforms are powerful tools to investigate genome-wide alterations in DNA copy number, methylation and gene expression associated with a disease. An integrated genomic profiling…

应用统计 · 统计学 2013-04-22 Ronglai Shen , Sijian Wang , Qianxing Mo

In genome wide association studies (GWAS), researchers are often dealing with non-normally distributed traits or a mixture of discrete-continuous traits. However, most of the current region-based methods rely on multivariate linear mixed…

统计方法学 · 统计学 2021-09-30 Julien St-Pierre , Karim Oualkacha

In this paper, association results from genome-wide association studies (GWAS) are combined with a deep learning framework to test the predictive capacity of statistically significant single nucleotide polymorphism (SNPs) associated with…

计算机与社会 · 计算机科学 2018-08-27 Casimiro Adays Curbelo Montañez , Paul Fergus , Almudena Curbelo Montañez , Carl Chalmers

With advancement of medicine, alternative exposures or interventions are emerging with respect to a common outcome, and there are needs to formally test the difference in the associations of multiple exposures. We propose a duplication…

统计方法学 · 统计学 2024-12-04 Rikuta Hamaya , Peilu Wang , Lin Ge , Edward L. Giovannucci , Molin Wang

Understanding the interplay between high-dimensional data from different views is essential in biomedical research, particularly in fields such as genomics, neuroimaging and biobank-scale studies involving high-dimensional features.…

统计方法学 · 统计学 2026-03-31 Ruyi Pan , Yinqiu He , Jun Young Park

In many transcriptomic studies, the correlation of genes might fluctuate with quantitative factors such as genetic ancestry. We propose a method that models the covariance between two variables to vary against a continuous covariate. For…

统计方法学 · 统计学 2021-05-03 Tae Hyun Kim , Dan Nicolae

Ancestry-specific proteome-wide association studies (PWAS) based on genetically predicted protein expression can reveal complex disease etiology specific to certain ancestral groups. These studies require ancestry-specific models for…

应用统计 · 统计学 2024-04-26 Aaron J. Molstad , Yanwei Cai , Alexander P. Reiner , Charles Kooperberg , Wei Sun , Li Hsu

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

We consider the problem of estimating multiple related but distinct graphical models on the basis of a high-dimensional data set with observations that belong to distinct classes. A motivating example occurs in the analysis of gene…

统计方法学 · 统计学 2012-07-12 Patrick Danaher , Pei Wang , Daniela M. Witten

Drug development is a very costly and lengthy process, while repositioned or repurposed drugs could be brought into clinical practice within a shorter time-frame and at a much reduced cost. The past decade has observed a massive growth in…

基因组学 · 定量生物学 2019-11-14 Alexandria Lau , Hon-Cheong So

Transcriptome-wide association studies (TWAS) are powerful tools for identifying gene-level associations by integrating genome-wide association studies and gene expression data. However, most TWAS methods focus on linear associations…

统计方法学 · 统计学 2024-12-10 Tianying Wang , Iuliana Ionita-Laza , Ying Wei