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Related papers: Estimating Reproducibility in Genome-Wide Associat…

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Genome-wide association studies (GWAS) have emerged as a rich source of genetic clues into disease biology, and they have revealed strong genetic correlations among many diseases and traits. Some of these genetic correlations may reflect…

Methodology · Statistics 2018-11-28 Luke J. O'Connor , Alkes L. Price

Genomic data arising from a genome-wide association study (GWAS) are often not only of large-scale, but also incomplete. A specific form of their incompleteness is missing values with non-ignorable missingness mechanism. The intrinsic…

Methodology · Statistics 2021-11-11 Siru Wang , Guoqi Qian

Reproducibility, the ability to recompute results, and replicability, the chances other experimenters will achieve a consistent result, are two foundational characteristics of successful scientific research. Consistent findings from…

Applications · Statistics 2015-06-23 Jeffrey T. Leek , Roger D. Peng

In genome-wide association (GWA) studies the goal is to detect association between one or more genetic markers and a given phenotype. The number of genetic markers in a GWA study can be in the order hundreds of thousands and therefore…

Methodology · Statistics 2016-12-22 Kari Krizak Halle , Srdjan Djurovic , Ole Andreas Andreassen , Mette Langaas

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) explain only a small fraction of heritability for most complex human phenotypes. Genomic heritability estimates the variance explained by the SNPs on the whole genome using mixed models and accounts…

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

The family-wise error rate (FWER) has been widely used in genome-wide association studies. With the increasing availability of functional genomics data, it is possible to increase the detection power by leveraging these genomic functional…

Methodology · Statistics 2020-12-25 Huijuan Zhou , Xianyang Zhang , Jun Chen

In genome-wide association studies (GWAS), hundreds of thousands of genetic markers (SNPs) are tested for association with a trait or phenotype. Reported effects tend to be larger in magnitude than the true effects of these markers, the…

Methodology · Statistics 2010-10-25 Michael E. Goddard , Naomi R. Wray , Klara Verbyla , Peter M. Visscher

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

In this paper we have proposed a model for the distribution of allelic probabilities for generating populations as reliably as possible. Our objective was to develop such a model which would allow simulating allelic probabilities with…

Genome-wide association studies (GWAS) have led to the discovery of numerous single nucleotide polymorphisms (SNPs) associated with various phenotypes and complex diseases. However, the identified genetic variants do not fully explain the…

Methodology · Statistics 2025-07-09 Dayeon Jung , Yewon Kim , Junyong Park

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

In genome-wide association (GWA) studies the goal is to detect associations between genetic markers and a given phenotype. The number of genetic markers can be large and effective methods for control of the overall error rate is a central…

Methodology · Statistics 2017-05-09 Kari Krizak Halle , Mette Langaas

Motivated by genome-wide association screening studies (GWAS), we study high-dimensional marginal screenings of categorical variables where test statistics have approximate chi-square distributions. We characterize four new phase…

Statistics Theory · Mathematics 2022-06-06 Zheng Gao

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

We study variance estimation and associated confidence intervals for parameters characterizing genetic effects from genome-wide association studies (GWAS) misspecified mixed model analysis. Previous studies have shown that, in spite of the…

Methodology · Statistics 2021-01-19 Cecilia Dao , Jiming Jiang , Debashis Paul , Hongyu Zhao

Statistical significance of both the original and the replication study is a commonly used criterion to assess replication attempts, also known as the two-trials rule in drug development. However, replication studies are sometimes conducted…

Applications · Statistics 2024-05-31 Leonhard Held , Samuel Pawel , Charlotte Micheloud

Although genome-wide association studies (GWAS) on complex traits have achieved great successes, the current leading GWAS approaches simply perform to test each genotype-phenotype association separately for each genetic variant. Curiously,…

Applications · Statistics 2022-08-26 The Tien Mai , Pierre Alquier

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