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Diabetes is a worldwide health issue affecting millions of people. Machine learning methods have shown promising results in improving diabetes prediction, particularly through the analysis of diverse data types, namely gene expression data.…

机器学习 · 计算机科学 2024-04-24 Rita T. Sousa , Heiko Paulheim

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…

Discovering genes with similar functions across diverse biomedical contexts poses a significant challenge in gene representation learning due to data heterogeneity. In this study, we resolve this problem by introducing a novel model called…

机器学习 · 计算机科学 2023-10-05 Tianyu Liu , Yuge Wang , Rex Ying , Hongyu Zhao

Meta-analysis of multiple genome-wide association studies (GWAS) is effective for detecting single or multi marker associations with complex traits. We develop a flexible procedure ("STAMP") based on mixture models to perform region based…

统计方法学 · 统计学 2018-01-01 Andriy Derkach , Ruth M. Pfeiffer

Reconstruction of a high-dimensional network may benefit substantially from the inclusion of prior knowledge on the network topology. In the case of gene interaction networks such knowledge may come for instance from pathway repositories…

Estimation of the allele frequency at genetic markers is a key ingredient in biological and biomedical research, such as studies of human genetic variation or of the genetic etiology of heritable traits. As genetic data becomes increasingly…

应用统计 · 统计学 2007-12-18 Marc Coram , Hua Tang

Measuring gene expression simultaneously in both hosts and symbionts offers a powerful approach to explore the biology underlying species interactions. Such dual or simultaneous RNAseq approaches have primarily been used to gain insight…

种群与进化 · 定量生物学 2022-06-28 Amanda K Hund , Peter Tiffin , Jean-Gabriel Young , Daniel I Bolnick

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…

应用统计 · 统计学 2011-04-07 Lambertus Klei , Brian P. Kent , Nadine Melhem , Bernie Devlin , Kathryn Roeder

In linear regression models with non-Gaussian errors, transformations of the response variable are widely used in a broad range of applications. Motivated by various genetic association studies, transformation methods for hypothesis testing…

统计方法学 · 统计学 2025-07-10 Yaowu Liu , Tianying Wang

Genetic Gaussian network of multiple phenotypes constructed through the genetic correlation matrix is informative for understanding their biological dependencies. However, its interpretation may be challenging because the estimated genetic…

统计方法学 · 统计学 2024-12-31 Yihe Yang , Noah Lorincz-Comi , Xiaofeng Zhu

Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown. Human complex diseases are likely influenced by…

统计方法学 · 统计学 2014-05-27 Zihuai He , Min Zhang , Xiaowei Zhan , Qing Lu

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…

统计方法学 · 统计学 2025-01-07 Dominic Edelmann , Fernando Castro-Prado , Jelle J. Goeman

High-throughput genetic and epigenetic data are often screened for associations with an observed phenotype. For example, one may wish to test hundreds of thousands of genetic variants, or DNA methylation sites, for an association with…

统计方法学 · 统计学 2017-10-20 Eric F. Lock , David B. Dunson

This paper describes a Bayesian statistical method for determining the genetic basis of a complex genetic trait. The method uses a sample of unrelated individuals classified into two groups, for example cases and controls. Each group is…

基因组学 · 定量生物学 2008-02-21 Toby Johnson

Understanding how stochastic gene expression is regulated in biological systems using snapshots of single-cell transcripts requires state-of-the-art methods of computational analysis and statistical inference. A Bayesian approach to…

定量方法 · 定量生物学 2018-12-10 Yen Ting Lin , Nicolas E. Buchler

Spatial transcriptomics (ST) is essential for understanding diseases and developing novel treatments. It measures gene expression of each fine-grained area (i.e., different windows) in the tissue slide with low throughput. This paper…

计算机视觉与模式识别 · 计算机科学 2022-11-01 Yan Yang , Md Zakir Hossain , Eric A Stone , Shafin Rahman

Single-cell RNA sequencing (scRNA-seq) provides unprecedented insights into cellular heterogeneity, enabling detailed analysis of complex biological systems at single-cell resolution. However, the high dimensionality and technical noise…

基因组学 · 定量生物学 2025-09-04 Hojjat Torabi Goudarzi , Maziyar Baran Pouyan

Multi-trait genome-wide association studies (GWAS) use multi-variate statistical methods to identify associations between genetic variants and multiple correlated traits simultaneously, and have higher statistical power than independent…

基因组学 · 定量生物学 2022-02-10 Muhammad Ammar Malik , Adriaan-Alexander Ludl , Tom Michoel

Genetic differences between individuals associated to quantitative phenotypic traits, including disease states, are usually found in non-coding genomic regions. These genetic variants are often also associated to differences in expression…

分子网络 · 定量生物学 2016-11-02 Lingfei Wang , Tom Michoel

Motivation: Modules in gene coexpression networks (GCN) can be regarded as gene groups with individual relationships. No studies have optimized module detection methods to extract diverse gene groups from GCN, especially for data from…

分子网络 · 定量生物学 2021-12-07 Iori Azuma , Tadahaya Mizuno , Hiroyuki Kusuhara