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A computationally simple genome-wide association study (GWAS) algorithm for estimating the main and epistatic effects of markers or single nucleotide polymorphisms (SNPs) is proposed. It is based on the intuitive assumption that changes of…

Quantitative Methods · Quantitative Biology 2017-08-08 Lev V. Utkin , Irina L. Utkina

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…

Methodology · Statistics 2018-01-01 Andriy Derkach , Ruth M. Pfeiffer

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…

Methodology · Statistics 2013-05-14 Pekka Marttinen , Jussi Gillberg , Aki Havulinna , Jukka Corander , Samuel Kaski

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…

Genomics · Quantitative Biology 2013-08-20 Inti Pedroso

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…

Quantitative Methods · Quantitative Biology 2013-08-08 Xia Shen

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…

Molecular Networks · Quantitative Biology 2024-11-01 Marc Subirana-Granés , Jill Hoffman , Haoyu Zhang , Christina Akirtava , Sutanu Nandi , Kevin Fotso , Milton Pividori

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'…

Methodology · Statistics 2023-10-09 Xinran Qi , Michael E. Belloy , Jiaqi Gu , Xiaoxia Liu , Hua Tang , Zihuai He

Investigating the genetic architecture of complex diseases is challenging due to the multifactorial and interactive landscape of genomic and environmental influences. Although genome-wide association studies (GWAS) have identified thousands…

Genomics · Quantitative Biology 2025-02-12 Burak Yelmen , Maris Alver , Merve Nur Güler , Estonian Biobank Research Team , Flora Jay , Lili Milani

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…

Genomics · Quantitative Biology 2019-07-19 Rong Jiao , Xiangning Chen , Eric Boerwinkle , Momiao Xiong

Understanding how genetic variants influence cellular-level processes is an important step towards understanding how they influence important organismal-level traits, or "phenotypes", including human disease susceptibility. To this end…

Methodology · Statistics 2013-07-30 Heejung Shim , Matthew Stephens

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.…

Applications · Statistics 2015-02-04 Jiahan Li , Wei Zhong , Runze Li , Rongling Wu

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…

Applications · Statistics 2010-10-04 Florian Frommlet , Felix Ruhaltinger , Piotr Twarog , Malgorzata Bogdan

In many scientific and engineering applications, one has to solve not one but a sequence of instances of the same problem. Often times, the problems in the sequence are linked in a way that allows intermediate results to be reused. A…

Mathematical Software · Computer Science 2013-05-01 Diego Fabregat-Traver , Paolo Bientinesi

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…

Methodology · Statistics 2021-02-04 Qiaolan Deng , Chi Song

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…

Machine Learning · Computer Science 2023-08-15 Zhendong Sha , Yuanzhu Chen , Ting Hu

Testing the association between a phenotype and many genetic variants from case-control data is essential in genome-wide association study (GWAS). This is a challenging task as many such variants are correlated or non-informative.…

Methodology · Statistics 2016-01-25 Zhendong Huang , Davide Ferrari , Guoqi Qian

Genome-wide Association Studies (GWASes) identify genomic variations that are statistically associated with a trait, such as a disease, in a group of individuals. Unfortunately, careless sharing of GWAS statistics might give rise to privacy…

Genomics · Quantitative Biology 2022-09-21 Túlio Pascoal , Jérémie Decouchant , Antoine Boutet , Marcus Völp

Conducting genome-wide association studies (GWAS) in copy number variation (CNV) level is a field where few people involves and little statistical progresses have been achieved, traditional methods suffer from many problems such as batch…

Methodology · Statistics 2020-11-17 Han Wang , Changhu Wang , Linjie Wu , Ruibin Xi

Motivation: Modern bioinformatics workflows, particularly in imaging and representation learning, can generate thousands to tens of thousands of quantitative phenotypes from a single cohort. In such settings, running genome-wide association…

Distributed, Parallel, and Cluster Computing · Computer Science 2026-04-24 Xingzhong Zhao , Ziqian Xie , Islam , Sheikh Muhammad Saiful , Tian Xia , Chen , Cheng , Degui Zhi

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…

Genomics · Quantitative Biology 2022-02-10 Muhammad Ammar Malik , Adriaan-Alexander Ludl , Tom Michoel
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