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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…

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

The aetiology of polygenic obesity is multifactorial, which indicates that life-style and environmental factors may influence multiples genes to aggravate this disorder. Several low-risk single nucleotide polymorphisms (SNPs) have been…

Genomics · Quantitative Biology 2018-08-27 Casimiro A. Curbelo Montañez , Paul Fergus , Carl Chalmers , Jade Hind

Genome Wide Association Studies (GWAS) are used to identify statistically significant genetic variants in case-control studies. GWAS typically use a p-value threshold of 5 x 10-8 to identify highly ranked single nucleotide polymorphisms…

Computational Engineering, Finance, and Science · Computer Science 2018-01-10 Paul Fergus , Casimiro Curbelo Montanez , Basma Abdulaimma , Paulo Lisboa , Carl Chalmers

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

Genome-Wide Association Studies are typically conducted using linear models to find genetic variants associated with common diseases. In these studies, association testing is done on a variant-by-variant basis, possibly missing out on…

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…

Methodology · Statistics 2010-10-25 Charles Kooperberg , Michael LeBlanc , James Y. Dai , Indika Rajapakse

Taking advantages of high-throughput genotyping technology of single nucleotide polymorphism (SNP), large genome-wide association studies (GWASs) have been considered as the promise to unravel the complex relationships between genotypes and…

Genomics · Quantitative Biology 2018-11-20 Xuan Guo

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…

Computers and Society · Computer Science 2018-08-27 Casimiro Adays Curbelo Montañez , Paul Fergus , Almudena Curbelo Montañez , Carl Chalmers

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

Genome-wide association studies (GWAS) involving increasing sample sizes have identified hundreds of genetic variants associated with complex diseases, such as type 2 diabetes (T2D); however, it is unclear how GWAS hits form unique…

Molecular Networks · Quantitative Biology 2023-09-20 Euijun Song

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…

Genomics · Quantitative Biology 2021-01-01 Liangying Yin , Carlos Kwan-long Chau , Yu-Ping Lin , Pak-Chung Sham , Hon-Cheong So

Genome-Wide Association Studies (GWAS) help identify genetic variations in people with diseases such as Parkinson's disease (PD), which are less common in those without the disease. Thus, GWAS data can be used to identify genetic variations…

Genomics · Quantitative Biology 2023-04-07 Ali Amelia , Lourdes Pena-Castillo , Hamid Usefi

Interactions among multiple genes across the genome may contribute to the risks of many complex human diseases. Whole-genome single nucleotide polymorphisms (SNPs) data collected for many thousands of SNP markers from thousands of…

Applications · Statistics 2011-11-28 Yu Zhang , Jing Zhang , Jun S. Liu

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

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

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.…

Quantitative Methods · Quantitative Biology 2020-12-21 Sezin Kircali Ata , Min Wu , Yuan Fang , Le Ou-Yang , Chee Keong Kwoh , Xiao-Li Li

A large amount of research has been devoted to the detection and investigation of epistatic interactions in genome-wide association studies (GWASs). Most of the literature focuses on low-order interactions between single-nucleotide…

Applications · Statistics 2017-02-17 Virginie Stanislas , Cyril Dalmasso , Christophe Ambroise

The paramount importance of replicating associations is well recognized in the genome-wide associaton (GWA) research community, yet methods for assessing replicability of associations are scarce. Published GWA studies often combine…

Methodology · Statistics 2014-04-30 Ruth Heller , Daniel Yekutieli

Combining data from several case-control genome-wide association (GWA) studies can yield greater efficiency for detecting associations of disease with single nucleotide polymorphisms (SNPs) than separate analyses of the component studies.…

Methodology · Statistics 2010-10-26 Ruth M. Pfeiffer , Mitchell H. Gail , David Pee
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