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Early detection of cancer plays a key role in improving survival rates, but identifying reliable biomarkers from RNA-seq data is still a major challenge. The data are high-dimensional, and conventional statistical methods often fail to…

Machine Learning · Computer Science 2025-12-09 Shreyas Shende , Varsha Narayanan , Vishal Fenn , Yiran Huang , Dincer Goksuluk , Gaurav Choudhary , Melih Agraz , Mengjia Xu

Genome Wide Association Studies (GWAS) are used to identify statistically significant genetic variants in case-control studies. GWAS typically use a p-value threshold of 5 x 10-8 to identify highly ranked single nucleotide polymorphisms…

Computational Engineering, Finance, and Science · Computer Science 2018-01-10 Paul Fergus , Casimiro Curbelo Montanez , Basma Abdulaimma , Paulo Lisboa , Carl Chalmers

One of the most important challenges in the analysis of high-throughput genetic data is the development of efficient computational methods to identify statistically significant Single Nucleotide Polymorphisms (SNPs). Genome-wide association…

Community detection is crucial in data mining. Traditional methods primarily focus on graph structure, often neglecting the significance of attribute features. In contrast, deep learning-based approaches incorporate attribute features and…

Social and Information Networks · Computer Science 2025-11-11 Hong Wang , Yinglong Zhang , Zhangqi Zhao , Zhicong Cai , Xuewen Xia , Xing Xu

In cancer research, high-throughput profiling has been extensively conducted. In recent studies, the integrative analysis of data on multiple cancer patient groups/subgroups has been conducted. Such analysis has the potential to reveal the…

Methodology · Statistics 2022-12-01 Yifan Sun , Zhengyang Sun , Yu Jiang , Yang Li , Shuangge Ma

Variable selection is of increasing importance to address the difficulties of high dimensionality in many scientific areas. In this paper, we demonstrate a property for distance covariance, which is incorporated in a novel feature screening…

Methodology · Statistics 2014-09-03 Jing Kong , Sijian Wang , Grace Wahba

Revealing relationships between genes and disease phenotypes is a critical problem in biomedical studies. This problem has been challenged by the heterogeneity of diseases. Patients of a perceived same disease may form multiple subgroups,…

Methodology · Statistics 2022-11-30 Yifan Sun , Ziye Luo , Xinyan Fan

Biomedical sciences are increasingly recognising the relevance of gene co-expression-networks for analysing complex-systems, phenotypes or diseases. When the goal is investigating complex-phenotypes under varying conditions, it comes…

Genome-Wide Association Studies are typically conducted using linear models to find genetic variants associated with common diseases. In these studies, association testing is done on a variant-by-variant basis, possibly missing out on…

Conditional correlation networks, within Gaussian Graphical Models (GGM), are widely used to describe the direct interactions between the components of a random vector. In the case of an unlabelled Heterogeneous population, Expectation…

Statistics Theory · Mathematics 2022-03-09 Thomas Lartigue , Stanley Durrleman , Stéphanie Allassonnière

The development of next generation sequencing (NGS) technology and genotype imputation methods enabled researchers to measure both common and rare variants in genome-wide association studies (GWAS). Statistical methods have been proposed to…

Methodology · Statistics 2018-12-14 XIaoyu Cai , Lo-Bin Chang , Chi Song

The Gaussian graphical model is a widely used tool for learning gene regulatory networks with high-dimensional gene expression data. Most existing methods for Gaussian graphical models assume that the data are homogeneous, i.e., all samples…

Methodology · Statistics 2018-05-08 Bochao Jia , Faming Liang

Transcriptome-wide association studies (TWAS) are powerful tools for identifying gene-level associations by integrating genome-wide association studies and gene expression data. However, most TWAS methods focus on linear associations…

Methodology · Statistics 2024-12-10 Tianying Wang , Iuliana Ionita-Laza , Ying Wei

We introduce a statistical method that can reconstruct nonlinear genetic models (i.e., including epistasis, or gene-gene interactions) from phenotype-genotype (GWAS) data. The computational and data resource requirements are similar to…

Genomics · Quantitative Biology 2015-09-29 Chiu Man Ho , Stephen D. H. Hsu

With the advance of high-throughput sequencing technologies, it has become feasible to investigate the influence of the entire spectrum of sequencing variations on complex human diseases. Although association studies utilizing the new…

Methodology · Statistics 2025-08-19 Ming Li , Zihuai He , Min Zhang , Xiaowei Zhan , Changshuai Wei , Robert C Elston , Qing Lu

To date, efforts to produce high-quality polygenic risk scores from genome-wide studies of common disease have focused on estimating and aggregating the effects of multiple SNPs. Here we propose a novel statistical approach for genetic risk…

Quantitative Methods · Quantitative Biology 2014-05-13 David Golan , Saharon Rosset

Large case/control Genome-Wide Association Studies (GWAS) often include groups of related individuals with known relationships. When testing for associations at a given locus, current methods incorporate only the familial relationships…

Applications · Statistics 2014-08-01 Joshua N. Sampson , Bill Wheeler , Peng Li , Jianxin Shi

Heterogeneity is a hallmark of complex diseases. Regression-based heterogeneity analysis, which is directly concerned with outcome-feature relationships, has led to a deeper understanding of disease biology. Such an analysis identifies the…

Methodology · Statistics 2022-11-29 Ziye Luo , Xinyue Yao , Yifan Sun , Xinyan Fan

Tumor heterogeneity is a challenge to designing effective and targeted therapies. Glioma-type identification depends on specific molecular and histological features, which are defined by the official WHO classification CNS. These guidelines…

Applications · Statistics 2023-05-23 Roberta Coletti , Mónica L. Mendonça , Susana Vinga , Marta B. Lopes

A large amount of research has been devoted to the detection and investigation of epistatic interactions in genome-wide association studies (GWASs). Most of the literature focuses on low-order interactions between single-nucleotide…

Applications · Statistics 2017-02-17 Virginie Stanislas , Cyril Dalmasso , Christophe Ambroise