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Transcriptome-wide association studies (TWAS) link genetic variation to complex traits by leveraging expression quantitative trait loci (eQTL) data. However, most implementations are typically limited to local (cis-acting) effects and fail…

分子网络 · 定量生物学 2025-12-09 Gutama Ibrahim Mohammad , Johan LM Björkegren , Tom Michoel

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…

The past decade has seen a rapid growth in omics technologies. Genome-wide association studies (GWAS) have uncovered susceptibility variants for a variety of complex traits. However, the functional significance of most discovered variants…

基因组学 · 定量生物学 2017-02-22 Hon-Cheong So

Large-scale genome-wide association studies (GWAS) have offered an exciting opportunity to discover putative causal genes or risk factors associated with diseases by using SNPs as instrumental variables (IVs). However, conventional…

统计方法学 · 统计学 2023-10-27 Ben Dai , Chunlin Li , Haoran Xue , Wei Pan , Xiaotong Shen

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 (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…

Transcriptome-wide association studies based on genetically predicted gene expression have the potential to identify novel regions associated with various complex traits. It has been shown that incorporating expression quantitative trait…

应用统计 · 统计学 2020-01-24 Aaron J. Molstad , Wei Sun , Li Hsu

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 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

Gene expression prediction plays a vital role in transcriptome-wide association studies (TWAS), which seek to establish associations between tissue gene expression and complex traits. Traditional models rely on genetic variants in close…

分子网络 · 定量生物学 2024-08-19 Gutama Ibrahim Mohammad , Tom Michoel

Meta-analysis of multiple genome-wide association studies (GWAS) is effective for detecting single or multi marker associations with complex traits. We develop a flexible procedure ("STAMP") based on mixture models to perform region based…

统计方法学 · 统计学 2018-01-01 Andriy Derkach , Ruth M. Pfeiffer

Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human traits or diseases in the past decade. Nevertheless, much of the heritability of many traits is still unaccounted for. Commonly used…

统计方法学 · 统计学 2022-04-22 Qiaolan Deng , Chi Song , Shili Lin

In genome-wide association studies (GWASs), there is an increasing need for detecting the associations between a genetic variant and multiple traits. In studies of complex diseases, it is common to measure several potentially correlated…

统计方法学 · 统计学 2021-02-04 Qiaolan Deng , Chi Song

The recent explosion of genetic and high dimensional biobank and 'omic' data has provided researchers with the opportunity to investigate the shared genetic origin (pleiotropy) of hundreds to thousands of related phenotypes. However,…

统计方法学 · 统计学 2023-03-21 Weiqiong Huang , Emily C. Hector , Joshua Cape , Chris McKennan

High-dimensional phenotypes hold promise for richer findings in association studies, but testing of several phenotype traits aggravates the grand challenge of association studies, that of multiple testing. Several methods have recently been…

统计方法学 · 统计学 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

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

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

With the recent advent of high-throughput genotyping techniques, genetic data for genome-wide association studies (GWAS) have become increasingly available, which entails the development of efficient and effective statistical approaches.…

应用统计 · 统计学 2015-02-04 Jiahan Li , Wei Zhong , Runze Li , Rongling Wu

Genetic variants in cis-regulatory elements or trans-acting regulators commonly influence the quantity and spatiotemporal distribution of gene transcription. Recent interest in expression quantitative trait locus (eQTL) mapping has…

基因组学 · 定量生物学 2015-11-12 Christopher D Brown , Lara M Mangravite , Barbara E Engelhardt

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
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