English
Related papers

Related papers: Association study between gene expression and mult…

200 papers

Motivation: Genome-wide association studies (GWASs), which assay more than a million single nucleotide polymorphisms (SNPs) in thousands of individuals, have been widely used to identify genetic risk variants for complex diseases. However,…

Computational Engineering, Finance, and Science · Computer Science 2015-01-27 Ben Teng , Can Yang , Jiming Liu , Zhipeng Cai , Xiang Wan

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…

Methodology · Statistics 2017-10-20 Eric F. Lock , David B. Dunson

Federated learning (FL) enables resource-constrained edge nodes to collaboratively learn a global model under the orchestration of a central server while keeping privacy-sensitive data locally. The…

Machine Learning · Computer Science 2021-04-07 Hongda Wu , Ping Wang

Replication helps ensure that a genotype-phenotype association observed in a genome-wide association (GWA) study represents a credible association and is not a chance finding or an artifact due to uncontrolled biases. We discuss…

Methodology · Statistics 2010-10-26 Peter Kraft , Eleftheria Zeggini , John P. A. Ioannidis

1) Micro-evolutionary predictions are complicated by ecological feedbacks like density dependence, while ecological predictions can be complicated by evolutionary change. A widely used approach in micro-evolution, quantitative genetics,…

Populations and Evolution · Quantitative Biology 2015-09-07 Tim Coulson , Floriane Plard , Susanne Schindler , Arpat Ozgul , Jean-Michel Gaillard

Our genomes influence nearly every aspect of human biology from molecular and cellular functions to phenotypes in health and disease. Human genetics studies have now associated hundreds of thousands of differences in our DNA sequence…

Other Quantitative Biology · Quantitative Biology 2023-07-27 IGVF Consortium

Genotype-phenotype (GP) maps specify how the random mutations that change genotypes generate variation by altering phenotypes, which, in turn, can trigger selection. Many GP maps share the following general properties: 1) The number of…

Populations and Evolution · Quantitative Biology 2014-02-07 Ard A Louis , Steffen Schaper

Second generation sequencing technologies are being increasingly used for genetic association studies, where the main research interest is to identify sets of genetic variants that contribute to various phenotype. The phenotype can be…

Methodology · Statistics 2025-08-18 Changshuai Wei , Qing Lu

In genetic studies of complex diseases, the underlying mode of inheritance is often not known. Thus, the most powerful test or other optimal procedure for one model, e.g. recessive, may be quite inefficient if another model, e.g. dominant,…

Statistics Theory · Mathematics 2007-06-13 Gang Zheng , Boris Freidlin , Joseph L. Gastwirth

The Two Alternative Forced Choice (2AFC) paradigm offers advantages over the Mean Opinion Score (MOS) paradigm in psychophysics (PF), such as simplicity and robustness. However, when evaluating perceptual distance models, MOS enables direct…

Computer Vision and Pattern Recognition · Computer Science 2025-10-07 Alexander Hepburn , Raul Santos-Rodriguez , Javier Portilla

Causal inference typically assumes centralized access to individual-level data. Yet, in practice, data are often decentralized across multiple sites, making centralization infeasible due to privacy, logistical, or legal constraints. We…

Methodology · Statistics 2026-02-04 Rémi Khellaf , Aurélien Bellet , Julie Josse

Multivariate linear mixed models (mvLMMs) have been widely used in many areas of genetics, and have attracted considerable recent interest in genome-wide association studies (GWASs). However, fitting mvLMMs is computationally non-trivial,…

Quantitative Methods · Quantitative Biology 2013-09-13 Xiang Zhou , Matthew Stephens

Large-scale {\it in vitro} drug sensitivity screens are an important tool in personalized oncology to predict the effectiveness of potential cancer drugs. The prediction of the sensitivity of cancer cell lines to a panel of drugs is a…

Methodology · Statistics 2020-03-10 Zhi Zhao , Manuela Zucknick

Although prospective logistic regression is the standard method of analysis for case-control data, it has been recently noted that in genetic epidemiologic studies one can use the ``retrospective'' likelihood to gain major power by…

Methodology · Statistics 2010-10-25 Nilanjan Chatterjee , Yi-Hau Chen , Sheng Luo , Raymond J. Carroll

Gene expression and phenotype association can be affected by potential unmeasured confounders from multiple sources, leading to biased estimates of the associations. Since genetic variants largely explain gene expression variations, they…

Methodology · Statistics 2019-10-23 Jiarui Lu , Hongzhe Li

Multiple testing with false discovery rate (FDR) control has been widely conducted in the ``discrete paradigm" where p-values have discrete and heterogeneous null distributions. However, in this scenario existing FDR procedures often lose…

Methodology · Statistics 2019-07-23 Xiongzhi Chen , R. W. Doerge , Sanat K. Sarkar

Traditional Federated Learning (FL) methods encounter significant challenges when dealing with heterogeneous data and providing personalized solutions for non-IID scenarios. Personalized Federated Learning (PFL) approaches aim to address…

Machine Learning · Computer Science 2025-11-11 Yasaman Saadati , Mohammad Rostami , M. Hadi Amini

Despite the versatility of generalized linear mixed models in handling complex experimental designs, they often suffer from misspecification and convergence problems. This makes inference on the values of coefficients problematic. To…

Methodology · Statistics 2025-03-31 Angela Andreella , Jelle Goeman , Jesse Hemerik , Livio Finos

Statistically resolving the underlying haplotype pair for a genotype measurement is an important intermediate step in gene mapping studies, and has received much attention recently. Consequently, a variety of methods for this problem have…

Machine Learning · Computer Science 2007-10-29 Matti Kääriäinen , Niels Landwehr , Sampsa Lappalainen , Taneli Mielikäinen

Modern statistical analyses often involve testing large numbers of hypotheses. In many situations, these hypotheses may have an underlying tree structure that not only helps determine the order that tests should be conducted but also…

Methodology · Statistics 2019-03-19 Yunxiao Li , Yi-Juan Hu , Glen A. Satten