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Mendelian randomization uses genetic variants to make causal inferences about the effect of a risk factor on an outcome. With fine-mapped genetic data, there may be hundreds of genetic variants in a single gene region any of which could be…

统计方法学 · 统计学 2017-07-10 Stephen Burgess , Verena Zuber , Elsa Valdes-Marquez , Benjamin B Sun , Jemma C Hopewell

There is increasing interest in the use of diagnostic rules based on microarray data. These rules are formed by considering the expression levels of thousands of genes in tissue samples taken on patients of known classification with respect…

统计理论 · 数学 2008-12-18 G. J. McLachlan , J. Chevelu , J. Zhu

We utilized abundant transcriptomic data for the primary classes of brain cancers to study the feasibility of separating all of these diseases simultaneously based on molecular data alone. These signatures were based on a new method…

Cancer is fundamentally a genetic disease characterized by genetic and epigenetic alterations that disrupt normal gene expression, leading to uncontrolled cell growth and metastasis. High-dimensional microarray datasets pose challenges for…

In microarray experiments, it is often of interest to identify genes which have a pre-specified gene expression profile with respect to time. Methods available in the literature are, however, typically not stringent enough in identifying…

应用统计 · 统计学 2009-01-18 J. Tuke , G. F. V. Glonek , P. J. Solomon

For many classification and regression problems, a large number of features are available for possible use - this is typical of DNA microarray data on gene expression, for example. Often, for computational or other reasons, only a small…

统计理论 · 数学 2007-06-13 Longhai Li , Jianguo Zhang , Radford M. Neal

High-throughput RNA sequencing (RNA-seq) is now the standard method to determine differential gene expression. Identifying differentially expressed genes crucially depends on estimates of read count variability. These estimates are…

The identification of predefined groups of genes ("gene-sets") which are differentially expressed between two conditions ("gene-set analysis", or GSA) is a very popular analysis in bioinformatics. GSA incorporates biological knowledge by…

统计方法学 · 统计学 2013-08-14 Nicolas Städler , Sach Mukherjee

DNA methylation is an epigenetic mechanism that regulates gene expression by adding methyl groups to DNA. Abnormal methylation patterns can disrupt gene expression and have been linked to cancer development. To quantify DNA methylation,…

图像与视频处理 · 电气工程与系统科学 2025-04-09 Manahil Raza , Muhammad Dawood , Talha Qaiser , Nasir M. Rajpoot

Microarrays are made it possible to simultaneously monitor the expression profiles of thousands of genes under various experimental conditions. Identification of co-expressed genes and coherent patterns is the central goal in microarray or…

计算工程、金融与科学 · 计算机科学 2013-07-15 T. Chandrasekhar , K. Thangavel , E. Elayaraja , E. N. Sathishkumar

High-dimensional linear classifiers, such as the support vector machine (SVM) and distance weighted discrimination (DWD), are commonly used in biomedical research to distinguish groups of subjects based on a large number of features.…

统计方法学 · 统计学 2017-10-20 Tianmeng Lyu , Eric F. Lock , Lynn E. Eberly

Prediction of mRNA gene-expression profiles directly from routine whole-slide images (WSIs) using deep learning models could potentially offer cost-effective and widely accessible molecular phenotyping. While such WSI-based gene-expression…

基因组学 · 定量生物学 2024-10-03 Fredrik K. Gustafsson , Mattias Rantalainen

We study two-sample variable selection: identifying variables that discriminate between the distributions of two sets of data vectors. Such variables help scientists understand the mechanisms behind dataset discrepancies. Although…

The speciation model proposed by Derrida and Higgs demonstrated that a sexually reproducing population can split into different species in the absence of natural selection or any type of geographic isolation, provided that mating is…

种群与进化 · 定量生物学 2017-01-06 Marcus A. M. de Aguiar

As we gain access to a greater depth and range of health-related information about individuals, three questions arise: (1) Can we build better models to predict individual-level risk of ill health? (2) How much data do we need to…

机器学习 · 统计学 2021-04-27 Mark Green

In this paper, we tackle the problem of selecting the optimal model for a given structured pattern classification dataset. In this context, a model can be understood as a classifier and a hyperparameter configuration. The proposed…

机器学习 · 计算机科学 2022-10-27 Gonzalo Nápoles , Isel Grau , Çiçek Güven , Orçun Özdemir , Yamisleydi Salgueiro

Substantial statistical research has recently been devoted to the analysis of large-scale microarray experiments which provide a measure of the simultaneous expression of thousands of genes in a particular condition. A typical goal is the…

统计方法学 · 统计学 2009-10-08 Shane T. Jensen , Ibrahim Erkan , Erna S. Arnardottir , Dylan S. Small

The model selection procedure is usually a single-criterion decision making in which we select the model that maximizes a specific metric in a specific set, such as the Validation set performance. We claim this is very naive and can perform…

Recent advances in generative models, including large language models (LLMs), vision language models (VLMs), and diffusion models, have accelerated the field of natural language and image processing in medicine and marked a significant…

Gene selection plays a pivotal role in oncology research for improving outcome prediction accuracy and facilitating cost-effective genomic profiling for cancer patients. This paper introduces two gene selection strategies for deep…

基因组学 · 定量生物学 2024-03-05 Akhila Krishna , Ravi Kant Gupta , Pranav Jeevan , Amit Sethi