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To understand how genetic variants in human genomes manifest in phenotypes -- traits like height or diseases like asthma -- geneticists have sequenced and measured hundreds of thousands of individuals. Geneticists use this data to build…

Machine Learning · Computer Science 2025-07-01 Alan N. Amin , Andres Potapczynski , Andrew Gordon Wilson

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

Genome-wide Association Studies (GWASes) identify genomic variations that are statistically associated with a trait, such as a disease, in a group of individuals. Unfortunately, careless sharing of GWAS statistics might give rise to privacy…

Genomics · Quantitative Biology 2022-09-21 Túlio Pascoal , Jérémie Decouchant , Antoine Boutet , Marcus Völp

Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals. In the past decade, detailed…

Populations and Evolution · Quantitative Biology 2014-08-19 Jeremy J. Berg , Graham Coop

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

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

In Genome-Wide Association Studies (GWAS) where multiple correlated traits have been measured on participants, a joint analysis strategy, whereby the traits are analyzed jointly, can improve statistical power over a single-trait analysis…

Methodology · Statistics 2018-07-30 Xingjie Shi , Yuling Jiao , Yi Yang , Ching-Yu Cheng , Can Yang , Xinyi Lin , Jin Liu

Unraveling the co-expression of genes across studies enhances the understanding of cellular processes. Inferring gene co-expression networks from transcriptome data presents many challenges, including spurious gene correlations, sample…

Machine Learning · Statistics 2024-10-01 Teodora Pandeva , Martijs Jonker , Leendert Hamoen , Joris Mooij , Patrick Forré

It has been proposed that complex populations, such as those that arise in genomics studies, may exhibit dependencies among observations as well as among variables. This gives rise to the challenging problem of analyzing unreplicated…

Machine Learning · Statistics 2018-06-08 Michael Hornstein , Roger Fan , Kerby Shedden , Shuheng Zhou

It is now well documented that genetic covariance between functionally related traits leads to an uneven distribution of genetic variation across multivariate trait combinations, and possibly a large part of phenotype-space that is…

Applications · Statistics 2022-10-24 Damian Pavlyshyn , Iain M. Johnstone , Jacqueline L. Sztepanacz

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

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

Ancestry-specific proteome-wide association studies (PWAS) based on genetically predicted protein expression can reveal complex disease etiology specific to certain ancestral groups. These studies require ancestry-specific models for…

Applications · Statistics 2024-04-26 Aaron J. Molstad , Yanwei Cai , Alexander P. Reiner , Charles Kooperberg , Wei Sun , Li Hsu

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

Combined inference for heterogeneous high-dimensional data is critical in modern biology, where clinical and various kinds of molecular data may be available from a single study. Classical genetic association studies regress a single…

Applications · Statistics 2017-03-22 Hélène Ruffieux , Anthony C. Davison , Jörg Hager , Irina Irincheeva

Large-scale genome-wide association studies (GWAS) have offered an exciting opportunity to discover putative causal genes or risk factors associated with diseases by using SNPs as instrumental variables (IVs). However, conventional…

Methodology · Statistics 2023-10-27 Ben Dai , Chunlin Li , Haoran Xue , Wei Pan , Xiaotong Shen

Generalized causal effect estimands, including the Mann-Whitney parameter and causal net benefit, provide flexible summaries of treatment effects in randomized experiments with non-Gaussian or multivariate outcomes. We develop a unified…

Methodology · Statistics 2026-02-27 Xinyuan Chen , Fan Li

Linear regression is arguably the most fundamental statistical model; however, the validity of its use in randomized clinical trials, despite being common practice, has never been crystal clear, particularly when stratified or…

Methodology · Statistics 2023-02-14 Wei Ma , Fuyi Tu , Hanzhong Liu

An important task of human genetics studies is to accurately predict disease risks in individuals based on genetic markers, which allows for identifying individuals at high disease risks, and facilitating their disease treatment and…

Genomics · Quantitative Biology 2013-08-20 Cong Li , Can Yang , Joel Gelernter , Hongyu Zhao

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