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The variance component tests used in genomewide association studies of thousands of individuals become computationally exhaustive when multiple traits are analysed in the context of omics studies. We introduce two high-throughput algorithms…

Computational Engineering, Finance, and Science · Computer Science 2012-11-13 Diego Fabregat-Traver , Yurii S. Aulchenko , Paolo Bientinesi

Recent research in neuroimaging has focused on assessing associations between genetic variants that are measured on a genomewide scale and brain imaging phenotypes. A large number of works in the area apply massively univariate analyses on…

Genome-wide association studies (GWAS) have achieved great success in the genetic study of Alzheimer's disease (AD). Collaborative imaging genetics studies across different research institutions show the effectiveness of detecting genetic…

Machine Learning · Computer Science 2017-04-28 Qingyang Li , Dajiang Zhu , Jie Zhang , Derrek Paul Hibar , Neda Jahanshad , Yalin Wang , Jieping Ye , Paul M. Thompson , Jie Wang

Traditional GWAS has advanced our understanding of complex diseases but often misses nonlinear genetic interactions. Deep learning offers new opportunities to capture complex genomic patterns, yet existing methods mostly depend on feature…

Machine Learning · Computer Science 2025-07-08 Iqra Farooq , Sara Atito , Ayse Demirkan , Inga Prokopenko , Muhammad Rana

A sensitivity analysis in an observational study tests whether the qualitative conclusions of an analysis would change if we were to allow for the possibility of limited bias due to confounding. The design sensitivity of a hypothesis test…

Methodology · Statistics 2024-08-06 Steven R. Howard , Samuel D. Pimentel

Gene expression and phenotype association can be affected by potential unmeasured confounders from multiple sources, leading to biased estimates of the associations. Since genetic variants largely explain gene expression variations, they…

Methodology · Statistics 2019-10-23 Jiarui Lu , Hongzhe Li

For a particular disease there may be two diagnostic tests developed, where each of the tests is subject to several studies. A quadrivariate generalized linear mixed model (GLMM) has been recently proposed to joint meta-analyse and compare…

Methodology · Statistics 2019-12-03 Aristidis K. Nikoloulopoulos

Gene Set Enrichment Analysis (GSEA) and its variations aim to discover collections of genes that show moderate but coordinated differences in expression. However, such techniques may be ineffective if many individual genes in a…

Genomics · Quantitative Biology 2011-01-19 Gang Fang , Michael Steinbach , Chad L. Myers , Vipin Kumar

A common problem in clinical trials is to test whether the effect of an explanatory variable on a response of interest is similar between two groups, e.g. patient or treatment groups. In this regard, similarity is defined as equivalence up…

Methodology · Statistics 2024-01-12 Niklas Hagemann , Giampiero Marra , Frank Bretz , Kathrin Möllenhoff

Approaches for testing sets of variants, such as a set of rare or common variants within a gene or pathway, for association with complex traits are important. In particular, set tests allow for aggregation of weak signal within a set, can…

Genomics · Quantitative Biology 2013-05-28 Jennifer Listgarten , Christoph Lippert , Eun Yong Kang , Jing Xiang , Carl M. Kadie , David Heckerman

Disease heterogeneity has been a critical challenge for precision diagnosis and treatment, especially in neurologic and neuropsychiatric diseases. Many diseases can display multiple distinct brain phenotypes across individuals, potentially…

Recent advances of information technology in biomedical sciences and other applied areas have created numerous large diverse data sets with a high dimensional feature space, which provide us a tremendous amount of information and new…

Applications · Statistics 2008-12-18 Yulan Liang , Arpad Kelemen

Motivation: In spite of great success of genome-wide association studies (GWAS), multiple challenges still remain. First, complex traits are often associated with many single nucleotide polymorphisms (SNPs), each with small or moderate…

As of 2005, sampling has been incorporated in all major database systems. While efficient sampling techniques are realizable, determining the accuracy of an estimate obtained from the sample is still an unresolved problem. In this paper, we…

Databases · Computer Science 2013-07-02 Supriya Nirkhiwale , Alin Dobra , Chris Jermaine

High dimensional hypothesis test deals with models in which the number of parameters is significantly larger than the sample size. Existing literature develops a variety of individual tests. Some of them are sensitive to the dense and small…

Statistics Theory · Mathematics 2018-08-09 Cheng Zhou , Xinsheng Zhang , Wenxin Zhou , Han Liu

To uncover the genetic basis of complex disease, individuals are often measured at a large number of genetic variants (usually SNPs) across the genome. GemTools provides computationally efficient tools for modeling genetic ancestry based on…

Applications · Statistics 2011-04-07 Lambertus Klei , Brian P. Kent , Nadine Melhem , Bernie Devlin , Kathryn Roeder

Genetic interaction measures how different genes collectively contribute to a phenotype, and can reveal functional compensation and buffering between pathways under genetic perturbations. Recently, genome-wide screening for genetic…

Molecular Networks · Quantitative Biology 2015-03-17 Gang Fang , Wen Wang , Vanja Paunic , Benjamin Oately , Majda Haznadar , Michael Steinbach , Brian Van Ness , Chad L. Myers , Vipin Kumar

Proteomics is the large-scale analysis of the proteins. The common method for identifying proteins and characterising their amino acid sequences is to digest the proteins into peptides, analyse the peptides using mass spectrometry and…

Computational Engineering, Finance, and Science · Computer Science 2019-02-05 Samaneh Azari , Bing Xue , Mengjie Zhang , Lifeng Peng

In the current era of systems biological research there is a need for the integrative analysis of binary and quantitative genomics data sets measured on the same objects. One standard tool of exploring the underlying dependence structure…

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) is a widely used method for quantifying gene expression levels due to its low cost, high accuracy and wide dynamic range for detection. However, the nature of RNA-Seq makes it…

Methodology · Statistics 2016-08-30 Hui Jiang , Tianyu Zhan