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An RNA-seq experiment with 48 biological replicates in each of 2 conditions was performed to determine the number of biological replicates ($n_r$) required, and to identify the most effective statistical analysis tools for identifying…

High-throughput sequencing of RNA transcripts (RNA-seq) has become the method of choice for detection of differential expression (DE). Concurrent with the growing popularity of this technology there has been a significant research effort…

High-throughput RNA sequencing (RNA-seq) has emerged as a revolutionary and powerful technology for expression profiling. Most proposed methods for detecting differentially expressed (DE) genes from RNA-seq are based on statistics that…

Genomics · Quantitative Biology 2014-11-18 Li Zhang , Xuejun Liu , Songcan Chen

RNA sequencing (RNA-seq) has been rapidly adopted for the profiling of transcriptomes in many areas of biology, including studies into gene regulation, development and disease. Of particular interest is the discovery of differentially…

The newly developed deep-sequencing technologies make it possible to acquire both quantitative and qualitative information regarding transcript biology. By measuring messenger RNA levels for all genes in a sample, RNA-seq provides an…

Genomics · Quantitative Biology 2014-12-05 Lerong Li , Momiao Xiong

Alternative splicing is crucial in gene regulation, with significant implications in clinical settings and biotechnology. This review article compiles bioinformatics RNA-seq tools for investigating differential splicing; offering a detailed…

Genomics · Quantitative Biology 2024-09-10 Ben J Draper , Mark J Dunning , David C James

The analysis of differential gene expression from RNA-Seq data has become a standard for several research areas mainly involving bioinformatics. The steps for the computational analysis of these data include many data types and file…

Genomics · Quantitative Biology 2021-09-09 Juliana Costa-Silva , Douglas S. Domingues , David Menotti , Mariangela Hungria , Fabricio M Lopes

Motivation: Bulk RNA-Seq is a widely used method for studying gene expression across a variety of contexts. The significance of RNA-Seq studies has grown with the advent of high-throughput sequencing technologies. Computational methods have…

Genomics · Quantitative Biology 2025-03-28 Juliana Costa-Silva , David Menotti , Fabricio M. Lopes

In differential expression (DE) analysis of RNA-seq count data, it is known that genes with a larger read number are more likely to be differentially expressed. This bias has a profound effect on the subsequent Gene Ontology (GO) analysis…

Genomics · Quantitative Biology 2015-08-18 Sora Yoon , Dougu Nam

There is a critical need for standard approaches to assess, report, and compare the technical performance of genome-scale differential gene expression experiments. We assess technical performance with a proposed "standard" dashboard of…

Normalization is a critical step in quantitative analyses of biological processes. Recent works show that cross-platform integration and normalization enable machine learning (ML) training on RNA microarray and RNA-seq data, but no…

Quantitative Methods · Quantitative Biology 2025-05-30 Fei Deng , Catherine H Feng , Nan Gao , Lanjing Zhang

High-throughput RNA sequencing (RNA-seq) is now the standard method to determine differential gene expression. Identifying differentially expressed genes crucially depends on estimates of read count variability. These estimates are…

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) is a widely used method for quantifying gene expression levels due to its low cost, high accuracy and wide dynamic range for detection. However, the nature of RNA-Seq makes it…

Methodology · Statistics 2016-08-30 Hui Jiang , Tianyu Zhan

Next generation sequencing allows the identification of genes consisting of differentially expressed transcripts, a term which usually refers to changes in the overall expression level. A specific type of differential expression is…

Genomics · Quantitative Biology 2017-11-07 Panagiotis Papastamoulis , Magnus Rattray

Gene expression profiling technologies have been used in various applications such as cancer biology. The development of gene expression profiling has expanded the scope of target discovery in transcriptomic studies, and each technology…

Genomics · Quantitative Biology 2023-01-10 Hyeongseon Jeon , Juan Xie , Yeseul Jeon , Kyeong Joo Jung , Arkobrato Gupta , Won Chang , Dongjun Chung

Many machine learning models have been proposed to classify phenotypes from gene expression data. In addition to their good performance, these models can potentially provide some understanding of phenotypes by extracting explanations for…

Genomics · Quantitative Biology 2024-02-05 Myriam Bontonou , Anaïs Haget , Maria Boulougouri , Benjamin Audit , Pierre Borgnat , Jean-Michel Arbona

A popular approach for comparing gene expression levels between (replicated) conditions of RNA sequencing data relies on counting reads that map to features of interest. Within such count-based methods, many flexible and advanced…

Quantitative Methods · Quantitative Biology 2014-03-17 Xiaobei Zhou , Helen Lindsay , Mark D. Robinson

RNA-seq allows detection and precise quantification of transcripts, provides comprehensive understanding of exon/intron boundaries, aids discovery of alternatively spliced isoforms and fusion transcripts along with measurement of…

Genomics · Quantitative Biology 2013-06-03 Prachi Jain , Neeraja M. Krishnan , Binay Panda

Differential expression (DE) plays a fundamental role toward illuminating the molecular mechanisms driving a difference between groups (e.g., due to treatment or disease). While any analysis is run on particular cells/samples, the intent is…

Quantitative Methods · Quantitative Biology 2023-12-12 Miriam Shiffman , Ryan Giordano , Tamara Broderick

As high-throughput sequencing has become common practice, the cost of sequencing large amounts of genetic data has been drastically reduced, leading to much larger data sets for analysis. One important task is to identify biological…

Methodology · Statistics 2014-10-14 Ciaran Evans , Johanna Hardin , Mark Huber , Daniel Stoebel , Garrett Wong
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