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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

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 (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

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

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

Genetic association study is an essential step to discover genetic factors that are associated with a complex trait of interest. In this paper we present a novel generalized quasi-likelihood score (GQLS) test that is suitable for a study…

Applications · Statistics 2011-11-24 Zeny Feng , William W. L. Wong , Xin Gao , Flavio Schenkel

Several statistical models used in genome-wide prediction assume independence of marker allele substitution effects, but it is known that these effects might be correlated. In statistics, graphical models have been identified as a useful…

Quantitative Methods · Quantitative Biology 2017-04-13 Carlos Alberto Martínez , Kshitij Khare , Syed Rahman , Mauricio A. Elzo

Multivariate linear mixed models (mvLMMs) have been widely used in many areas of genetics, and have attracted considerable recent interest in genome-wide association studies (GWASs). However, fitting mvLMMs is computationally non-trivial,…

Quantitative Methods · Quantitative Biology 2013-09-13 Xiang Zhou , Matthew Stephens

Genomic regions (or loci) displaying outstanding correlation with some environmental variables are likely to be under selection and this is the rationale of recent methods of identifying selected loci and retrieving functional information…

Populations and Evolution · Quantitative Biology 2013-08-13 Gilles Guillot

The topic of multiple hypotheses testing now has a potpourri of novel theories and ubiquitous applications in diverse scientific fields. However, the universal utility of this field often hinders the possibility of having a generalized…

Statistics Theory · Mathematics 2025-04-25 Monitirtha Dey , Subir Kumar Bhandari

We analyze control of the familywise error rate (FWER) in a multiple testing scenario with a great many null hypotheses about the distribution of a high-dimensional random variable among which only a very small fraction are false, or…

Methodology · Statistics 2015-09-15 Kamel Lahouel , Donald Geman , Laurent Younes

When simultaneously testing multiple hypotheses, the usual approach in the context of confirmatory clinical trials is to control the familywise error rate (FWER), which bounds the probability of making at least one false rejection. In many…

Methodology · Statistics 2021-05-20 David S. Robertson , James M. S. Wason , Frank Bretz

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

In genome-wide prediction, independence of marker allele substitution effects is typically assumed; however, since early stages of this technology it has been known that nature points to correlated effects. In statistics, graphical models…

Quantitative Methods · Quantitative Biology 2017-09-21 Carlos Alberto Martínez , Kshitij Khare , Syed Rahman , Mauricio A. Elzo

In many transcriptomic studies, the correlation of genes might fluctuate with quantitative factors such as genetic ancestry. We propose a method that models the covariance between two variables to vary against a continuous covariate. For…

Methodology · Statistics 2021-05-03 Tae Hyun Kim , Dan Nicolae

Recent results in coupled or temporal graphical models offer schemes for estimating the relationship structure between features when the data come from related (but distinct) longitudinal sources. A novel application of these ideas is for…

Machine Learning · Statistics 2017-11-22 Ronak Mehta , Hyunwoo J. Kim , Shulei Wang , Sterling C. Johnson , Ming Yuan , Vikas Singh

There remains an open question about the usefulness and the interpretation of Machine learning (MLE) approaches for discrimination of spatial patterns of brain images between samples or activation states. In the last few decades, these…

Machine Learning · Statistics 2022-09-22 JM Gorriz , R. Martin-Clemente , C. G. Puntonet , A. Ortiz , J. Ramirez , J. Suckling

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

When testing for the association of a single SNP with a phenotypic response, one usually considers an additive genetic model, assuming that the mean of of the response for the heterozygous state is the average of the means for the two…

Methodology · Statistics 2025-01-07 Dominic Edelmann , Fernando Castro-Prado , Jelle J. Goeman

Studying phenotype-gene association can uncover mechanism of diseases and develop efficient treatments. In complex disease where multiple phenotypes are available and correlated, analyzing and interpreting associated genes for each…

Methodology · Statistics 2021-12-14 Yujia Li , Yusi Fang , Peng Liu , George C. Tseng
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