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Genetic interactions play an important role in the progression of complex diseases, providing explanation of variations in disease phenotype missed by main genetic effects. Comparatively, there are fewer investigations on prognostic…

统计方法学 · 统计学 2021-09-23 Xing Qin , Shuangge Ma , Mengyun Wu

Genetic variation in human populations is influenced by geographic ancestry due to spatial locality in historical mating and migration patterns. Spatial population structure in genetic datasets has been traditionally analyzed using either…

种群与进化 · 定量生物学 2016-10-26 Anand Bhaskar , Adel Javanmard , Thomas A. Courtade , David Tse

Background: Missing data is a common challenge in mass spectrometry-based metabolomics, which can lead to biased and incomplete analyses. The integration of whole-genome sequencing (WGS) data with metabolomics data has emerged as a…

Electronic healthcare records (EHR) contain a huge wealth of data that can support the prediction of clinical outcomes. EHR data is often stored and analysed using clinical codes (ICD10, SNOMED), however these can differ across registries…

机器学习 · 计算机科学 2024-12-03 Elizabeth Remfry , Rafael Henkin , Michael R Barnes , Aakanksha Naik

Given genetic variations and various phenotypical traits, such as Magnetic Resonance Imaging (MRI) features, we consider two important and related tasks in biomedical research: i)to select genetic and phenotypical markers for disease…

机器学习 · 计算机科学 2013-10-17 Shandian Zhe , Zenglin Xu , Yuan Qi

Alzheimer's disease is the most common cause of dementia. It is the fifth-leading cause of death among elderly people. With high genetic heritability (79%), finding disease causal genes is a crucial step in find treatment for AD. Following…

应用统计 · 统计学 2018-11-14 Sicheng Hao , Rui Wang , Yu Zhang , Hui Zhan

Motivation: The rapid growth in genome-wide association studies (GWAS) in plants and animals has brought about the need for a central resource that facilitates i) performing GWAS, ii) accessing data and results of other GWAS, and iii)…

In genome-wide association studies (GWAS), hundreds of thousands of genetic markers (SNPs) are tested for association with a trait or phenotype. Reported effects tend to be larger in magnitude than the true effects of these markers, the…

统计方法学 · 统计学 2010-10-25 Michael E. Goddard , Naomi R. Wray , Klara Verbyla , Peter M. Visscher

We propose a resampling-based fast variable selection technique for detecting relevant single nucleotide polymorphisms (SNP) in a multi-marker mixed effect model. Due to computational complexity, current practice primarily involves testing…

应用统计 · 统计学 2025-04-30 Subhabrata Majumdar , Saonli Basu , Matt McGue , Snigdhansu Chatterjee

In genomic studies, identifying biomarkers associated with a variable of interest is a major concern in biomedical research. Regularized approaches are classically used to perform variable selection in high-dimensional linear models.…

统计方法学 · 统计学 2020-07-22 Wencan Zhu , Céline Lévy-Leduc , Nils Ternès

An important task of human genetics studies is to accurately predict disease risks in individuals based on genetic markers, which allows for identifying individuals at high disease risks, and facilitating their disease treatment and…

基因组学 · 定量生物学 2013-08-20 Cong Li , Can Yang , Joel Gelernter , Hongyu Zhao

Designing proper treatment plans to manage diabetes requires health practitioners to pay heed to the individuals remaining life along with the comorbidities affecting them. Older adults with Type 2 Diabetes Mellitus (T2DM) are prone to…

机器学习 · 计算机科学 2024-02-20 Ruchika Desure , Gutha Jaya Krishna

To date, most genetic analyses of phenotypes have focused on analyzing single traits or, analyzing each phenotype independently. However, joint epistasis analysis of multiple complementary traits will increase statistical power, and hold…

基因组学 · 定量生物学 2015-12-04 Futao Zhang , Dan Xie , Meimei Liang , Momiao Xiong

The aim of this paper is to propose a novel estimation method of using genetic-predicted observations to estimate trans-ancestry genetic correlations, which describes how genetic architecture of complex traits varies among populations, in…

统计方法学 · 统计学 2022-03-24 Bingxin Zhao , Xiaochen Yang , Hongtu Zhu

Cardiovascular disease and chronic kidney disease are major complications of diabetes, leading to high morbidity and mortality. Early detection of these conditions is critical, yet traditional diagnostic markers often lack sensitivity in…

其他定量生物学 · 定量生物学 2025-10-20 Syed Ibad Hasnain

The polygenic risk scores (PRS) have emerged as an important methodology for quantifying genetic predisposition to complex traits and clinical disease. Significant progress has been made in applying PRS to conditions such as obesity,…

Diabetes, a pervasive and enduring health challenge, imposes significant global implications on health, financial healthcare systems, and societal well-being. This study undertakes a comprehensive exploration of various structural learning…

机器学习 · 计算机科学 2024-03-22 Sheresh Zahoor , Anthony C. Constantinou , Tim M Curtis , Mohammed Hasanuzzaman

Genome-wide association studies (GWAS) provide a means of examining the common genetic variation underlying a range of traits and disorders. In addition, it is hoped that GWAS may provide a means of differentiating affected from unaffected…

Diabetes mellitus type II affects around 8 percent of the total adult population in the world. It is the fifth leading cause of death in high income countries and an epidemic in developing countries. We analyze protein-protein interaction…

分子网络 · 定量生物学 2014-11-18 Sarika Jalan , Aparna Rai , Amit Kumar Pawar

Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional…

统计方法学 · 统计学 2010-10-26 Sebastian Zöllner , Tanya M. Teslovich