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Since its first publication in 2003, the Gene Set Enrichment Analysis (GSEA) method, based on the Kolmogorov-Smirnov statistic, has been heavily used, modified, and also questioned. Recently a simplified approach, using a one sample t test…

Methodology · Statistics 2012-10-12 Pablo Tamayo , George Steinhardt , Arthur Liberzon , Jill P. Mesirov

Gene expression microarray technologies provide the simultaneous measurements of a large number of genes. Typical analyses of such data focus on the individual genes, but recent work has demonstrated that evaluating changes in expression…

Applications · Statistics 2010-06-29 Babak Shahbaba , Robert Tibshirani , Catherine M. Shachaf , Sylvia K. Plevritis

Motivation: Gene set testing is typically performed in a supervised context to quantify the association between groups of genes and a clinical phenotype. In many cases, however, a gene set-based interpretation of genomic data is desired in…

Quantitative Methods · Quantitative Biology 2015-03-17 H. Robert Frost , Zhigang Li , Jason H. Moore

This paper discusses the problem of identifying differentially expressed groups of genes from a microarray experiment. The groups of genes are externally defined, for example, sets of gene pathways derived from biological databases. Our…

Statistics Theory · Mathematics 2009-09-29 Bradley Efron , Robert Tibshirani

The linking genotype to phenotype is the fundamental aim of modern genetics. We focus on study of links between gene expression data and phenotype data through integrative analysis. We propose three approaches. 1) The inherent complexity of…

Quantitative Methods · Quantitative Biology 2015-06-30 Min Xu

The proliferation of omics datasets in public repositories has created unprecedented opportunities for biomedical research but has also posed significant challenges for their integration, particularly due to missing genes and…

Genetic Algorithms (GAs) are known for their efficiency in solving combinatorial optimization problems, thanks to their ability to explore diverse solution spaces, handle various representations, exploit parallelism, preserve good…

Neural and Evolutionary Computing · Computer Science 2023-09-29 Majid Sohrabi , Amir M. Fathollahi-Fard , Vasilii A. Gromov

Motivation: Although principal component analysis (PCA) is widely used for the dimensional reduction of biomedical data, interpretation of PCA results remains daunting. Most existing methods attempt to explain each principal component (PC)…

Quantitative Methods · Quantitative Biology 2015-08-24 H. Robert Frost , Zhigang Li , Jason H. Moore

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.…

Machine Learning · Computer Science 2024-04-24 Rita T. Sousa , Heiko Paulheim

Discovering important genes that account for the phenotype of interest has long been challenging in genomewide expression analysis. Analyses such as Gene Set Enrichment Analysis (GSEA) that incorporate pathway information have become…

Methodology · Statistics 2017-01-23 Yaohui Zeng , Patrick Breheny

Genetic risk prediction is an important component of individualized medicine, but prediction accuracies remain low for many complex diseases. A fundamental limitation is the sample sizes of the studies on which the prediction algorithms are…

Methodology · Statistics 2017-06-20 Sihai Dave Zhao

Popular online enrichment analysis tools from the field of molecular systems biology provide users with the ability to submit their experimental results as gene sets for individual analysis. Such queries are kept private, and have never…

Molecular Networks · Quantitative Biology 2016-01-08 Avi Ma'ayan , Neil R. Clark

Bioinformatics tools have been developed to interpret gene expression data at the gene set level, and these gene set based analyses improve the biologists' capability to discover functional relevance of their experiment design. While…

Machine Learning · Statistics 2019-01-01 Hung-I Harry Chen , Yu-Chiao Chiu , Tinghe Zhang , Songyao Zhang , Yufei Huang , Yidong Chen

Differential co-expression analysis has been widely applied by scientists in understanding the biological mechanisms of diseases. However, the unknown differential patterns are often complicated; thus, models based on simplified parametric…

Methodology · Statistics 2022-01-13 Tianxi Li , Xiwei Tang , Ajay Chatrath

The standard methods for detecting differential gene expression are mostly designed for analyzing a single gene expression experiment. When data from multiple related gene expression studies are available, separately analyzing each study is…

Methodology · Statistics 2013-11-07 Yingying Wei , Hongkai Ji

Much of the natural variation for a complex trait can be explained by variation in DNA sequence levels. As part of sequence variation, gene-gene interaction has been ubiquitously observed in nature, where its role in shaping the development…

Applications · Statistics 2012-10-01 Shaoyu Li , Yuehua Cui

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

Motivation: Pathway enrichment analysis is widely used to interpret gene expression data. Standard approaches, such as GSEA, rely on predefined phenotypic labels and pairwise comparisons, which limits their applicability in unsupervised…

Machine Learning · Computer Science 2026-01-28 Zhiwei Zheng , Kevin Bryson

The objective of this paper is to define an effective strategy for building an ensemble of Genetic Programming (GP) models. Ensemble methods are widely used in machine learning due to their features: they average out biases, they reduce the…

Neural and Evolutionary Computing · Computer Science 2019-06-14 Mauro Castelli , Ivo Gonçalves , Luca Manzoni , Leonardo Vanneschi

A prespecified set of genes may be enriched, to varying degrees, for genes that have altered expression levels relative to two or more states of a cell. Knowing the enrichment of gene sets defined by functional categories, such as gene…

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