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相关论文: Exploring the genetic patterns of complex diseases…

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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

Genome-wide association studies(GWAS) have proven to be highly useful in revealing the genetic basis of complex diseases. At present, most GWAS are studies of a particular single disease diagnosis against controls. However, in practice, an…

基因组学 · 定量生物学 2021-01-01 Liangying Yin , Carlos Kwan-long Chau , Yu-Ping Lin , Pak-Chung Sham , Hon-Cheong So

Presented here is a simple method for cross-validated genome-wide association studies (cvGWAS). Focusing on phenotype prediction, the method is able to reveal a significant amount of missing heritability by properly selecting a small number…

定量方法 · 定量生物学 2013-08-08 Xia Shen

Motivation: Genome-Wide Association Studies (GWAS) seek to identify causal genomic variants associated with rare human diseases. The classical statistical approach for detecting these variants is based on univariate hypothesis testing, with…

统计方法学 · 统计学 2018-10-22 Florent Guinot , Marie Szafranski , Christophe Ambroise , Franck Samson

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 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

Since the emergence of genome-wide association studies (GWASs), estimation of the narrow sense heritability explained by common single-nucleotide polymorphisms (SNPs) via linear mixed model approaches became widely used. As in most GWASs,…

统计方法学 · 统计学 2015-07-31 Najla Saad Elhezzani

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with complex traits, and some variants are shown to be associated with multiple complex traits. Genetic covariance between two traits is defined…

统计方法学 · 统计学 2023-10-06 Jianqiao Wang , Sai Li , Hongzhe Li

Many common diseases are highly polygenic, modulated by a large number genetic factors with small effects on susceptibility to disease. These small effects are difficult to map reliably in genetic association studies. To address this…

定量方法 · 定量生物学 2012-08-23 Peter Carbonetto , Matthew Stephens

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…

应用统计 · 统计学 2010-10-04 Florian Frommlet , Felix Ruhaltinger , Piotr Twarog , Malgorzata Bogdan

Disease-gene association through Genome-wide association study (GWAS) is an arduous task for researchers. Investigating single nucleotide polymorphisms (SNPs) that correlate with specific diseases needs statistical analysis of associations.…

定量方法 · 定量生物学 2020-12-21 Sezin Kircali Ata , Min Wu , Yuan Fang , Le Ou-Yang , Chee Keong Kwoh , Xiao-Li Li

The majority of common diseases are influenced by multiple genetic and environmental factors such as Cancer. Even though uncovering the main causes of disease is deemed difficult due to the complexity of gene-gene and gene-environment…

其他计算机科学 · 计算机科学 2017-05-10 Layan Nahlawi

It is widely recognized nowadays that complex diseases are caused by, amongst the others, multiple genetic factors. The recent advent of genome-wide association study (GWA) has triggered a wave of research aimed at discovering genetic…

应用统计 · 统计学 2011-09-30 Nguyen Xuan Vinh

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

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…

统计方法学 · 统计学 2017-06-20 Sihai Dave Zhao

Multi-trait genome-wide association studies (GWAS) use multi-variate statistical methods to identify associations between genetic variants and multiple correlated traits simultaneously, and have higher statistical power than independent…

基因组学 · 定量生物学 2022-02-10 Muhammad Ammar Malik , Adriaan-Alexander Ludl , Tom Michoel

Genome-wide association studies (GWASs) have been extensively adopted to depict the underlying genetic architecture of complex diseases. Motivated by GWASs' limitations in identifying small effect loci to understand complex traits'…

统计方法学 · 统计学 2023-10-09 Xinran Qi , Michael E. Belloy , Jiaqi Gu , Xiaoxia Liu , Hua Tang , Zihuai He

To date, genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants among a variety of traits/diseases, shedding a light on the genetic architecture of complex diseases. Polygenicity of complex…

统计方法学 · 统计学 2017-10-27 Yi Yang , Mingwei Dai , Jian Huang , Xinyi Lin , Can Yang , Jin Liu , Min Chen

Genome-wide association studies (GWAS) are commonly employed to study the genetic basis of complex traits and diseases, and a key question is how much heritability could be explained by all variants in GWAS. One widely used approach that…

基因组学 · 定量生物学 2023-06-27 Hon-Cheong So , Xiao Xue , Pak-Chung Sham

Understanding the genetic basis of complex traits is a longstanding challenge in the field of genomics. Genome-wide association studies (GWAS) have identified thousands of variant-trait associations, but most of these variants are located…

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