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It has been shown that a random-effects framework can be used to test the association between a gene's expression level and the number of DNA copies of a set of genes. This gene-set modelling framework was later applied to find associations…

统计方法学 · 统计学 2015-10-09 Renée Menezes , Leila Mohammadi , Jelle Goeman , Judith Boer

In practical domains, high-dimensional data are usually associated with diverse semantic labels, whereas traditional feature selection methods are designed for single-label data. Moreover, existing multi-label methods encounter two main…

机器学习 · 计算机科学 2025-05-26 Yan Zhong , Xingyu Wu , Xinping Zhao , Li Zhang , Xinyuan Song , Lei Shi , Bingbing Jiang

One of the outstanding challenges in comparative genomics is to interpret the evolutionary importance of regulatory variation between species. Rigorous molecular evolution-based methods to infer evidence for natural selection from…

种群与进化 · 定量生物学 2013-10-16 Joshua G. Schraiber , Yulia Mostovoy , Tiffany Y. Hsu , Rachel B. Brem

Background: Although Alzheimer's disease (AD) is a central nervous system disease and type 2 diabetes mellitus (T2DM) is a metabolic disorder, an increasing number of genetic epidemiological studies show clear link between AD and T2DM. The…

分子网络 · 定量生物学 2019-01-18 Zixin Hu , Rong Jiao , Jiucun Wang , Panpan Wang , Yun Zhu , Jinying Zhao , Phil De Jager , David A Bennett , Li Jin , Momiao Xiong

Detecting the interactions of genetic compounds like genes, SNPs, proteins, metabolites, etc. can potentially unravel the mechanisms behind complex traits and common genetic disorders. Several methods have been taken into consideration for…

计算工程、金融与科学 · 计算机科学 2015-05-26 Francesco Gadaleta

Haplotypes, the global patterns of DNA sequence variation, have important implications for identifying complex traits. Recently, blocks of limited haplotype diversity have been discovered in human chromosomes, intensifying the research on…

基因组学 · 定量生物学 2012-07-19 Nebojsa Jojic , Vladimir Jojic , David Heckerman

Genome-Wide Association Studies (GWAS) explain only a small fraction of heritability for most complex human phenotypes. Genomic heritability estimates the variance explained by the SNPs on the whole genome using mixed models and accounts…

In Genome-Wide Association Studies (GWAS) where multiple correlated traits have been measured on participants, a joint analysis strategy, whereby the traits are analyzed jointly, can improve statistical power over a single-trait analysis…

统计方法学 · 统计学 2018-07-30 Xingjie Shi , Yuling Jiao , Yi Yang , Ching-Yu Cheng , Can Yang , Xinyi Lin , Jin Liu

Polygenic risk scores can be used to model the individual genetic liability for human traits. Current methods primarily focus on modeling the mean of a phenotype neglecting the variance. However, genetic variants associated with phenotypic…

应用统计 · 统计学 2025-09-26 Qiong Wu , Hannah Klinkhammer , Kiran Kunwar , Christian Staerk , Carlo Maj , Andreas Mayr

High-dimensional time series datasets are becoming increasingly common in many areas of biological and social sciences. Some important applications include gene regulatory network reconstruction using time course gene expression data, brain…

统计方法学 · 统计学 2021-08-02 Sumanta Basu , David S. Matteson

In high-throughput genomics, large-scale designed experiments are becoming common, and analysis approaches based on highly multivariate regression and anova concepts are key tools. Shrinkage models of one form or another can provide…

应用统计 · 统计学 2007-09-14 David M. Seo , Pascal J. Goldschmidt-Clermont , Mike West

Fast and cheaper next generation sequencing technologies will generate unprecedentedly massive and highly-dimensional genomic and epigenomic variation data. In the near future, a routine part of medical record will include the sequenced…

基因组学 · 定量生物学 2013-01-17 Momiao Xiong , Long Ma

We seek to identify genes involved in Parkinson's Disease (PD) by combining information across different experiment types. Each experiment, taken individually, may contain too little information to distinguish some important genes from…

Spatial transcriptomics has revolutionized tissue analysis by simultaneously mapping gene expression, spatial topography, and histological context across consecutive tissue sections, enabling systematic investigation of spatial…

应用统计 · 统计学 2025-10-24 Meng Zhou , Shuangge Ma , Mengyun Wu

Various statistical methods important for genetic analysis are considered and developed. Namely, we concentrate on the multifactor dimensionality reduction, logic regression, random forests and stochastic gradient boosting. These methods…

概率论 · 数学 2011-06-29 Alexander Bulinski , Oleg Butkovsky , Alexey Shashkin , Pavel Yaskov

In genome-wide association studies (GWAS), penalization is an important approach for identifying genetic markers associated with trait while mixed model is successful in accounting for a complicated dependence structure among samples.…

统计方法学 · 统计学 2013-05-21 Jin Liu , Can Yang , Xingjie Shi , Cong Li , Jian Huang , Hongyu Zhao , Shuangge Ma

In modern scientific studies, it is often imperative to determine whether a set of phenotypes is affected by a single factor. If such an influence is identified, it becomes essential to discern whether this effect is contingent upon…

统计方法学 · 统计学 2024-03-22 Srijan Chattopadhyay , Swapnaneel Bhattacharyya , Sevantee Basu

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…

应用统计 · 统计学 2014-08-01 Joshua N. Sampson , Bill Wheeler , Peng Li , Jianxin Shi

Multi-cellular programs (MCPs) are coordinated patterns of gene expression across interacting cell types that collectively drive complex biological processes such as tissue development and immune responses. While MCPs are typically…

统计方法学 · 统计学 2026-02-05 Qi Xu , Jing Lei , Kathryn Roeder

Polygenic risk scores (PRS) developed from genome-wide association studies (GWAS) can be used for risk stratification by quantifying the genetic contribution to disease, and many clinical applications have been proposed. Bayesian methods…

统计方法学 · 统计学 2026-03-11 Yuzheng Dun , Nilanjan Chatterjee , Jin Jin , Akihiko Nishimura