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Quantitative genetic studies that model complex, multivariate phenotypes are important for both evolutionary prediction and artificial selection. For example, changes in gene expression can provide insight into developmental and…

Applications · Statistics 2013-05-03 Daniel E Runcie , Sayan Mukherjee

Genetic interactions play an important role in the progression of complex diseases, providing explanation of variations in disease phenotype missed by main genetic effects. Comparatively, there are fewer investigations on prognostic…

Methodology · Statistics 2021-09-23 Xing Qin , Shuangge Ma , Mengyun Wu

The Genotype-Tissue Expression (GTEx) project collects samples from multiple human tissues to study the relationship between genetic variation or single nucleotide polymorphisms (SNPs) and gene expression in each tissue. However, most…

Methodology · Statistics 2022-11-28 Fei Xue , Hongzhe Li

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

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

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

A large number of recent genome-wide association studies (GWASs) for complex phenotypes confirm the early conjecture for polygenicity, suggesting the presence of large number of variants with only tiny or moderate effects. However, due to…

Genomics · Quantitative Biology 2018-05-01 Mingwei Dai , Xiang Wan , Hao Peng , Yao Wang , Yue Liu , Jin Liu , Zongben Xu , Can Yang

The aim of this paper is to propose a novel estimation method of using genetic-predicted observations to estimate trans-ancestry genetic correlations, which describes how genetic architecture of complex traits varies among populations, in…

Methodology · Statistics 2022-03-24 Bingxin Zhao , Xiaochen Yang , Hongtu Zhu

Motivation. Association studies have been widely used to search for associations between common genetic variants observations and a given phenotype. However, it is now generally accepted that genes and environment must be examined jointly…

A daunting challenge faced by modern biological sciences is finding an efficient and computationally feasible approach to deal with the curse of high dimensionality. The problem becomes even more severe when the research focus is on…

Methodology · Statistics 2013-04-16 Hung Hung , Yu-Tin Lin , Pengwen Chen , Chen-Chien Wang , Su-Yun Huang , Jung-Ying Tzeng

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

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

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

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

Selecting influential nonlinear interactive features from ultrahigh dimensional data has been an important task in various fields. However, statistical accuracy and computational feasibility are the two biggest concerns when more than half…

Methodology · Statistics 2021-11-15 Randall Reese , Guifang Fu , Geran Zhao , Xiaotian Dai , Xiaotian Li , Kenneth Chiu

We show that the signal-processing paradigm known as compressed sensing (CS) is applicable to genome-wide association studies (GWAS) and genomic selection (GS). The aim of GWAS is to isolate trait-associated loci, whereas GS attempts to…

Genomics · Quantitative Biology 2014-05-13 Shashaank Vattikuti , James J. Lee , Christopher C. Chang , Stephen D. H. Hsu , Carson C. Chow

We consider in this paper detection of signal regions associated with disease outcomes in whole genome association studies. Gene- or region-based methods have become increasingly popular in whole genome association analysis as a…

Methodology · Statistics 2020-09-30 Zilin Li , Yaowu Liu , Xihong Lin

Genome-wide association studies (GWASs) aim to detect genetic risk factors for complex human diseases by identifying disease-associated single-nucleotide polymorphisms (SNPs). The traditional SNP-wise approach along with multiple testing…

Methodology · Statistics 2019-09-25 Yan Xu , Li Xing , Jessica Su , Xuekui Zhang , Weiliang Qiu

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

Recent studies demonstrate that effective healthcare can benefit from using the human genomic information. For instance, analysis of tumor genomes has revealed 140 genes whose mutations contribute to cancer. As a result, many institutions…

Cryptography and Security · Computer Science 2017-03-09 Md Nazmus Sadat , Md Momin Al Aziz , Noman Mohammed , Feng Chen , Shuang Wang , Xiaoqian Jiang
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