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Background: Identification of causal SNPs in most genome wide association studies relies on approaches that consider each SNP individually. However, there is a strong correlation structure among SNPs that need to be taken into account.…

Applications · Statistics 2012-11-02 Verena Zuber , A. Pedro Duarte Silva , Korbinian Strimmer

Identifying disease-associated genes enables the development of precision medicine and the understanding of biological processes. Genome-wide association studies (GWAS), gene expression data, biological pathway analysis, and protein network…

Genomics · Quantitative Biology 2026-03-10 Muhammad Muneeb , David B. Ascher , YooChan Myung

Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However,…

Computational Engineering, Finance, and Science · Computer Science 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

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,…

Methodology · Statistics 2015-07-31 Najla Saad Elhezzani

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

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

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,…

Methodology · Statistics 2019-03-05 Bingxin Zhao , Hongtu Zhu

While linear mixed model (LMM) has shown a competitive performance in correcting spurious associations raised by population stratification, family structures, and cryptic relatedness, more challenges are still to be addressed regarding the…

Machine Learning · Computer Science 2023-02-15 Wenting Ye , Xiang Liu , Tianwei Yue , Wenping Wang

Standard approaches to analysing data in genome-wide association studies (GWAS) ignore any potential functional relationships between genetic markers. In contrast gene pathways analysis uses prior information on functional structure within…

Methodology · Statistics 2013-02-26 M. Silver , P. Chen , L. Ruoying , C. Y. Cheng , T. Y. Wong , E. Tai , Y. Y. Teo , G. Montana

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

Genome-wide association studies (GWAS) have achieved great success in the genetic study of Alzheimer's disease (AD). Collaborative imaging genetics studies across different research institutions show the effectiveness of detecting genetic…

Machine Learning · Computer Science 2017-04-28 Qingyang Li , Dajiang Zhu , Jie Zhang , Derrek Paul Hibar , Neda Jahanshad , Yalin Wang , Jieping Ye , Paul M. Thompson , Jie Wang

Cluster analysis of biological samples using gene expression measurements is a common task which aids the discovery of heterogeneous biological sub-populations having distinct mRNA profiles. Several model-based clustering algorithms have…

Methodology · Statistics 2012-01-30 Alberto Cozzini , Ajay Jasra , Giovanni Montana

The standard paradigm for the analysis of genome-wide association studies involves carrying out association tests at both typed and imputed SNPs. These methods will not be optimal for detecting the signal of association at SNPs that are not…

The problems of large-scale multiple testing are often encountered in modern scientific researches. Conventional multiple testing procedures usually suffer considerable loss of testing efficiency due to the lack of consideration of…

Methodology · Statistics 2022-12-21 Pengfei Wang , Zhaofeng Tian

Over the last decade, a large variety of clustering algorithms have been developed to detect coregulatory relationships among genes from microarray gene expression data. Model based clustering approaches have emerged as statistically well…

Quantitative Methods · Quantitative Biology 2008-01-15 Anagha Joshi , Yves Van de Peer , Tom Michoel

Traditional GWAS has advanced our understanding of complex diseases but often misses nonlinear genetic interactions. Deep learning offers new opportunities to capture complex genomic patterns, yet existing methods mostly depend on feature…

Machine Learning · Computer Science 2025-07-08 Iqra Farooq , Sara Atito , Ayse Demirkan , Inga Prokopenko , Muhammad Rana

Where causal SNPs (single nucleotide polymorphisms) tend to accumulate within biological pathways, the incorporation of prior pathways information into a statistical model is expected to increase the power to detect true associations in a…

Methodology · Statistics 2012-01-30 Matt Silver , Giovanni Montana

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…

Methodology · Statistics 2023-02-07 Aastha Khatiwada , Ayse Selen Yilmaz , Bethany J. Wolf , Maciej Pietrzak , Dongjun Chung

Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional…

Methodology · Statistics 2010-10-26 Sebastian Zöllner , Tanya M. Teslovich

Imaging genetic studies aim to find associations between genetic variants and imaging quantitative traits. Traditional genome-wide association studies (GWAS) are based on univariate statistical tests, but when multiple traits are analyzed…

Genomics · Quantitative Biology 2022-04-04 Muhammad Ammar Malik , Alexander S. Lundervold , Tom Michoel