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Related papers: Replicability analysis for genome-wide association…

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Large-scale replication studies like the Reproducibility Project: Psychology (RP:P) provide invaluable systematic data on scientific replicability, but most analyses and interpretations of the data fail to agree on the definition of…

Methodology · Statistics 2022-03-08 Kenneth Hung , William Fithian

The vast majority of connections between complex disease and common genetic variants were identified through meta-analysis, a powerful approach that enables large samples sizes while protecting against common artifacts due to population…

Imputation using external reference panels is a widely used approach for increasing power in GWAS and meta-analysis. Existing HMM-based imputation approaches require individual-level genotypes. Here, we develop a new method for Gaussian…

Meta-analysis of genome-wide association studies is increasingly popular and many meta-analytic methods have been recently proposed. A majority of meta-analytic methods combine information from multiple studies by assuming that studies are…

Quantitative Methods · Quantitative Biology 2014-01-20 Buhm Han , Jae Hoon Sul , Eleazar Eskin , Paul I. W. de Bakker , Soumya Raychaudhuri

We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…

Applications · Statistics 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

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

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

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…

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

Motivation: Genome-wide association studies (GWAS) have successfully identified thousands of genetic risk loci for complex traits and diseases. Most of these GWAS loci lie in regulatory regions of the genome and the gene through which each…

Quantitative Methods · Quantitative Biology 2022-10-31 Leonardo Martini , Adriano Fazzone , Michele Gentili , Luca Becchetti , Brian Hobbs

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…

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…

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…

Methodology · Statistics 2022-04-22 Qiaolan Deng , Chi Song , Shili Lin

Drug development is a very costly and lengthy process, while repositioned or repurposed drugs could be brought into clinical practice within a shorter time-frame and at a much reduced cost. The past decade has observed a massive growth in…

Genomics · Quantitative Biology 2019-11-14 Alexandria Lau , Hon-Cheong So

We provide a view on high-dimensional statistical inference for genome-wide association studies (GWAS). It is in part a review but covers also new developments for meta analysis with multiple studies and novel software in terms of an…

Applications · Statistics 2020-02-17 Claude Renaux , Laura Buzdugan , Markus Kalisch , Peter Bühlmann

Genome-wide association study (GWAS) tests single nucleotide polymorphism (SNP) markers across the genome to localize the underlying causal variant of a trait. Because causal variants are seldom observed directly, a surrogate model based on…

Populations and Evolution · Quantitative Biology 2023-03-03 Hanbin Lee , Moo Hyuk Lee

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

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

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

Large case/control Genome-Wide Association Studies (GWAS) often include groups of related individuals with known relationships. When testing for associations at a given locus, current methods incorporate only the familial relationships…

Applications · Statistics 2014-08-01 Joshua N. Sampson , Bill Wheeler , Peng Li , Jianxin Shi