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Genome-wide association studies (GWASs) aim to detect genetic risk factors for complex human diseases by identifying disease-associated single-nucleotide polymorphisms (SNPs). The traditional SNP-wise approach along with multiple testing…

统计方法学 · 统计学 2019-09-25 Yan Xu , Li Xing , Jessica Su , Xuekui Zhang , Weiliang Qiu

Genome-wide association studies (GWAS) have identified hundreds of loci at very stringent levels of statistical significance across many different human traits. However, it is now clear that very large samples (n~10^4-10^5) are needed to…

基因组学 · 定量生物学 2013-08-20 Inti Pedroso

Genome-wide association studies (GWAS) have successfully identified over two hundred thousand genotype-trait associations. Yet some challenges remain. First, complex traits are often associated with many single nucleotide polymorphisms…

统计方法学 · 统计学 2023-02-07 Aastha Khatiwada , Ayse Selen Yilmaz , Bethany J. Wolf , Maciej Pietrzak , Dongjun Chung

2 Diabetes is a leading worldwide public health concern, and its increasing prevalence has significant health and economic importance in all nations. The condition is a multifactorial disorder with a complex aetiology. The genetic…

机器学习 · 计算机科学 2018-08-30 Basma Abdulaimma , Paul Fergus , Carl Chalmers

Sparse regularized regression methods are now widely used in genome-wide association studies (GWAS) to address the multiple testing burden that limits discovery of potentially important predictors. Linear mixed models (LMMs) have become an…

统计方法学 · 统计学 2022-06-27 Julien St-Pierre , Karim Oualkacha , Sahir Rai Bhatnagar

Genome-Wide Association Studies (GWAS) identify associations between genetic variants and disease; however, moving beyond associations to causal mechanisms is critical for therapeutic target prioritization. The recently proposed Knowledge…

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,…

统计方法学 · 统计学 2019-03-05 Bingxin Zhao , Hongtu Zhu

One of the most important challenges in the analysis of high-throughput genetic data is the development of efficient computational methods to identify statistically significant Single Nucleotide Polymorphisms (SNPs). Genome-wide association…

Understanding the spatiotemporal dynamics of disease progression in relation to transcriptomic profiles provides key insights into complex conditions such as Alzheimer disease. To enable such investigations, STARmap PLUS technology offers…

应用统计 · 统计学 2026-04-28 Zitian Wu , Susmita Datta , Arkaprava Roy

Given genetic variations and various phenotypical traits, such as Magnetic Resonance Imaging (MRI) features, we consider two important and related tasks in biomedical research: i)to select genetic and phenotypical markers for disease…

机器学习 · 计算机科学 2013-10-17 Shandian Zhe , Zenglin Xu , Yuan Qi

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

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…

We introduce the spike-and-slab group lasso (SSGL) for Bayesian estimation and variable selection in linear regression with grouped variables. We further extend the SSGL to sparse generalized additive models (GAMs), thereby introducing the…

统计方法学 · 统计学 2020-07-29 Ray Bai , Gemma E. Moran , Joseph Antonelli , Yong Chen , Mary R. Boland

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

Genome-wide association studies (GWAS) provide a means of examining the common genetic variation underlying a range of traits and disorders. In addition, it is hoped that GWAS may provide a means of differentiating affected from unaffected…

Genome-wide association studies, in which as many as a million single nucleotide polymorphisms (SNP) are measured on several thousand samples, are quickly becoming a common type of study for identifying genetic factors associated with many…

统计方法学 · 统计学 2010-10-25 Charles Kooperberg , Michael LeBlanc , James Y. Dai , Indika Rajapakse

Discovering important genes that account for the phenotype of interest has long been challenging in genomewide expression analysis. Analyses such as Gene Set Enrichment Analysis (GSEA) that incorporate pathway information have become…

统计方法学 · 统计学 2017-01-23 Yaohui Zeng , Patrick Breheny

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…

基因组学 · 定量生物学 2018-05-01 Mingwei Dai , Xiang Wan , Hao Peng , Yao Wang , Yue Liu , Jin Liu , Zongben Xu , Can Yang

A genome-wide association study (GWAS) correlates marker variation with trait variation in a sample of individuals. Each study subject is genotyped at a multitude of SNPs (single nucleotide polymorphisms) spanning the genome. Here we assume…

机器学习 · 统计学 2019-01-14 Kevin L. Keys , Gary K. Chen , Kenneth Lange