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Gene set analysis (GSA) is a foundational approach for interpreting genomic data of diseases by linking genes to biological processes. However, conventional GSA methods overlook clinical context of the analyses, often generating long lists…

In high-throughput data, dynamic correlation between genes, i.e. changing correlation patterns under different biological conditions, can reveal important regulatory mechanisms. Given the complex nature of dynamic correlation, and the…

Applications · Statistics 2017-05-09 Tianwei Yu

Introduction: Feature selection and gene set analysis are of increasing interest in bioinformatics. While these two approaches have been developed for different purposes, we describe how some gene set analysis methods can be used to conduct…

Methodology · Statistics 2015-11-30 Suyan Tian , Chi Wang , Howard H. Chang

Genome-wide association studies (GWAS) have identified hundreds of loci at very stringent levels of statistical significance across many different human traits. However, it is now clear that very large samples (n~10^4-10^5) are needed to…

Genomics · Quantitative Biology 2013-08-20 Inti Pedroso

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

Understanding epistasis (genetic interaction) may shed some light on the genomic basis of common diseases, including disorders of maximum interest due to their high socioeconomic burden, like schizophrenia. Distance correlation is an…

Direct Coupling Analysis (DCA) is a now widely used method to leverage statistical information from many similar biological systems to draw meaningful conclusions on each system separately. DCA has been applied with great success to…

Populations and Evolution · Quantitative Biology 2018-08-13 Chen-Yi Gao , Fabio Cecconi , Angelo Vulpiani , Hai-Jun Zhou , Erik Aurell

The increasing availability of high-dimensional, longitudinal measures of gene expression can facilitate understanding of biological mechanisms, as required for precision medicine. Biological knowledge suggests that it may be best to…

Applications · Statistics 2025-04-18 Jiachen Cai , Robert J. B. Goudie , Colin Starr , Brian D. M. Tom

We consider the task of detecting regulatory elements in the human genome directly from raw DNA. Past work has focused on small snippets of DNA, making it difficult to model long-distance dependencies that arise from DNA's 3-dimensional…

Genomics · Quantitative Biology 2017-10-04 Ankit Gupta , Alexander M. Rush

Subgroup identification (clustering) is an important problem in biomedical research. Gene expression profiles are commonly utilized to define subgroups. Longitudinal gene expression profiles might provide additional information on disease…

Methodology · Statistics 2016-09-27 Jiehuan Sun , Jose D. Herazo-Maya , Naftali Kaminski , Hongyu Zhao , Joshua L. Warren

As gene expression measurement technology is shifting from microarrays to sequencing, the statistical tools available for their analysis must be adapted since RNA-seq data are measured as counts. Recently, it has been proposed to tackle the…

Applications · Statistics 2022-11-10 Denis Agniel , Boris P Hejblum

Modelling and understanding directional gene networks is a major challenge in biology as they play an important role in the architecture and function of genetic systems. Copula Directional Dependence (CDD) can measure the directed…

Methodology · Statistics 2022-03-11 Vasiliki Vamvaka , Clara Grazian

Feature selection poses a challenge in small-sample high-dimensional datasets, where the number of features exceeds the number of observations, as seen in microarray, gene expression, and medical datasets. There isn't a universally optimal…

Machine Learning · Computer Science 2024-07-23 Hossein Nematzadeh , Joseph Mani , Zahra Nematzadeh , Ebrahim Akbari , Radziah Mohamad

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

The identification of predefined groups of genes ("gene-sets") which are differentially expressed between two conditions ("gene-set analysis", or GSA) is a very popular analysis in bioinformatics. GSA incorporates biological knowledge by…

Methodology · Statistics 2013-08-14 Nicolas Städler , Sach Mukherjee

Linkage disequilibrium score regression (LDSC) has emerged as an essential tool for genetic and genomic analyses of complex traits, utilizing high-dimensional data derived from genome-wide association studies (GWAS). LDSC computes the…

Methodology · Statistics 2025-04-16 Fei Xue , Bingxin Zhao

In The Cancer Genome Atlas (TCGA) data set, there are many interesting nonlinear dependencies between pairs of genes that reveal important relationships and subtypes of cancer. Such genomic data analysis requires a rapid, powerful and…

Applications · Statistics 2022-11-30 Siqi Xiang , Wan Zhang , Siyao Liu , Katherine A. Hoadley , Charles M. Perou , Kai Zhang , J. S. Marron

Diseases involve complex processes and modifications to the cellular machinery. The gene expression profile of the affected cells contains characteristic patterns linked to a disease. Hence, biological knowledge pertaining to a disease can…

Quantitative Methods · Quantitative Biology 2020-04-13 Thomas Gaudelet , Noel Malod-Dognin , Jon Sanchez-Valle , Vera Pancaldi , Alfonso Valencia , Natasa Przulj

Transcriptional regulation of gene expression is one of the main processes that affect cell diversification from a single set of genes. Regulatory proteins often interact with DNA regions located distally from the transcription start sites…

Genomics · Quantitative Biology 2014-04-30 Sofie Demeyer , Tom Michoel

Understanding the relationships between different properties of data, such as whether a connectome or genome has information about disease status, is becoming increasingly important in modern biological datasets. While existing approaches…

Machine Learning · Statistics 2024-06-27 Joshua T. Vogelstein , Eric Bridgeford , Qing Wang , Carey E. Priebe , Mauro Maggioni , Cencheng Shen
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