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Genome-wide association studies (GWAS) offer new opportunities to identify genetic risk factors for Alzheimer's disease (AD). Recently, collaborative efforts across different institutions emerged that enhance the power of many existing…

Machine Learning · Computer Science 2016-08-26 Qingyang Li , Tao Yang , Liang Zhan , Derrek Paul Hibar , Neda Jahanshad , Yalin Wang , Jieping Ye , Paul M. Thompson , Jie Wang

We propose a method for detecting significant interactions in very large multivariate spatial point patterns. This methodology develops high dimensional data understanding in the point process setting. The method is based on modelling the…

Methodology · Statistics 2017-10-25 Tuomas Rajala , David Murrell , Sofia Olhede

Standard logistic regression analysis of case-control data has low power to detect gene-environment interactions, but until recently it was the only method that could be used on complex polygenic data for which parametric distributional…

Methodology · Statistics 2020-10-13 Tianying Wang , Alex Asher

Genetic interactions confer robustness on cells in response to genetic perturbations. This often occurs through molecular buffering mechanisms that can be predicted using, among other features, the degree of coexpression between genes,…

Quantitative Methods · Quantitative Biology 2017-03-14 Alberto Roverato , Robert Castelo

The genotype-fitness map plays a fundamental role in shaping the dynamics of evolution. However, it is difficult to directly measure a fitness landscape in practice, because the number of possible genotypes is astronomical. One approach is…

Populations and Evolution · Quantitative Biology 2014-11-11 Jakub Otwinowski , Joshua B. Plotkin

Detection of interactions between treatment effects and patient descriptors in clinical trials is critical for optimizing the drug development process. The increasing volume of data accumulated in clinical trials provides a unique…

Applications · Statistics 2017-12-25 Baptiste Goujaud , Eric W. Tramel , Pierre Courtiol , Mikhail Zaslavskiy , Gilles Wainrib

Assessing the statistical power to detect susceptibility variants plays a critical role in GWA studies both from the prospective and retrospective points of view. Power is empirically estimated by simulating phenotypes under a disease model…

Applications · Statistics 2012-01-25 Vittorio Perduca , Christine Sinoquet , Raphael Mourad , Gregory Nuel

In variable selection, most existing screening methods focus on marginal effects and ignore dependence between covariates. To improve the performance of selection, we incorporate pairwise effects in covariates for screening and…

Methodology · Statistics 2019-02-12 Siliang Gong , Kai Zhang , Yufeng Liu

Replicability is central to scientific progress, and the partial conjunction (PC) hypothesis testing framework provides an objective tool to quantify it across disciplines. Existing PC methods assume independent studies. Yet many modern…

Methodology · Statistics 2025-12-30 Monitirtha Dey , Trambak Banerjee , Prajamitra Bhuyan , Arunabha Majumdar

We consider the problem of detecting and estimating the strength of association between a trait of interest and alleles or haplotypes in a small genomic region (e.g. a gene or a gene complex), when no direct information on that region is…

Applications · Statistics 2008-04-11 Rodrigo Labouriau , Poul Sørensen , Helle R. Juul-Madsen

Gene expression-based heterogeneity analysis has been extensively conducted. In recent studies, it has been shown that network-based analysis, which takes a system perspective and accommodates the interconnections among genes, can be more…

Methodology · Statistics 2023-08-09 Rong Li , Qingzhao Zhang , Shuangge Ma

Polygnicity refers to the phenomenon that multiple genetic variants have a non-zero effect on a complex trait. It is defined as the proportion of genetic variants that have a nonzero effect on the trait. Evaluation of polygenicity can…

Genomics · Quantitative Biology 2022-07-26 Arunabha Majumdar , Bogdan Pasaniuc

Investigating the causal relationships between characteristics and expressions plays a critical role in healthcare analytics. Effective synthesis for expressions using given characteristics can make great contributions to health risk…

Machine Learning · Statistics 2022-05-31 Yuxuan Li , Ying Lin , Chenang Liu

The advent of high-throughput sequencing technologies has lead to vast comparative genome sequences. The construction of gene-gene interaction networks or dependence graphs on the genome scale is vital for understanding the regulation of…

Methodology · Statistics 2023-03-06 Xinyao Fan , Harry Joe , Yongjin Park

High-throughput scientific studies involving no clear a'priori hypothesis are common. For example, a large-scale genomic study of a disease may examine thousands of genes without hypothesizing that any specific gene is responsible for the…

Methodology · Statistics 2012-03-02 Babak Shahbaba

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…

We present an alternative method for genome-wide association studies (GWAS) that is more powerful than the regular GWAS method for locus detection. The regular GWAS method suffers from a substantial multiple-testing burden because of the…

Applications · Statistics 2018-12-19 William Denault , Håkon K. Gjessing , Julius Juodakis , Bo Jacobsson , Astanand Jugessur

Recent technological advances have made it possible to collect high-dimensional genomic data along with clinical data on a large number of subjects. In the studies of chronic diseases such as cancer, it is of great interest to integrate…

Methodology · Statistics 2020-11-03 Hoi Min Ng , Binyan Jiang , Kin Yau Wong

Discovering important genes that account for the phenotype of interest has long been challenging in genomewide expression analysis. Analyses such as Gene Set Enrichment Analysis (GSEA) that incorporate pathway information have become…

Methodology · Statistics 2017-01-23 Yaohui Zeng , Patrick Breheny

We describe a regularized regression model for the selection of gene-environment (GxE) interactions. The model focuses on a single environmental exposure and induces a main-effect-before-interaction hierarchical structure. We propose an…

Methodology · Statistics 2022-02-08 Natalia Zemlianskaia , W. James Gauderman , Juan Pablo Lewinger