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Next-generation RNA sequencing (RNA-seq) technology has been widely used to assess full-length RNA isoform abundance in a high-throughput manner. RNA-seq data offer insight into gene expression levels and transcriptome structures, enabling…

Applications · Statistics 2021-12-01 Wei Vivian Li , Anqi Zhao , Shihua Zhang , Jingyi Jessica Li

RNA sequencing (RNA-seq) enables characterization and quantification of individual transcriptomes as well as detection of patterns of allelic expression and alternative splicing. Current RNA-seq protocols depend on high-throughput…

Genomics · Quantitative Biology 2015-06-19 Hyunghoon Cho , Joe Davis , Xin Li , Kevin S. Smith , Alexis Battle , Stephen B. Montgomery

RNA-Seq technology allows for studying the transcriptional state of the cell at an unprecedented level of detail. Beyond quantification of whole-gene expression, it is now possible to disentangle the abundance of individual alternatively…

Genomics · Quantitative Biology 2012-10-11 Barbara Rakitsch , Christoph Lippert , Hande Topa , Karsten Borgwardt , Antti Honkela , Oliver Stegle

An important challenge in cancer systems biology is to uncover the complex network of interactions between genes (tumor suppressor genes and oncogenes) implicated in cancer. Next generation sequencing provides unparalleled ability to probe…

Genomics · Quantitative Biology 2012-12-10 Ying Cai , Bernard Fendler , Gurinder S. Atwal

Urothelial cell carcinoma (UCC) is the ninth most common cancer that accounts for 4.7% of all the new cancer cases globally. UCC development and progression are due to complex and stochastic genetic programmes. To study the cascades of…

Single-cell RNA-Sequencing (scRNA-Seq) has undergone major technological advances in recent years, enabling the conception of various organism-level cell atlassing projects. With increasing numbers of datasets being deposited in public…

RNA-Seq technology offers new high-throughput ways for transcript identification and quantification based on short reads, and has recently attracted great interest. The problem is usually modeled by a weighted splicing graph whose nodes…

Quantitative Methods · Quantitative Biology 2013-08-02 Alexandru I. Tomescu , Anna Kuosmanen , Romeo Rizzi , Veli Mäkinen

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

Deep sequencing has become one of the most popular tools for transcriptome profiling in biomedical studies. While an abundance of computational methods exists for "normalizing" sequencing data to remove unwanted between-sample variations…

Genomics · Quantitative Biology 2022-01-14 Yannick Düren , Johannes Lederer , Li-Xuan Qin

Single-cell RNA-seq data are challenging because of the sparseness of the read counts, the tiny expression of many relevant genes, and the variability in the efficiency of RNA extraction for different cells. We consider a simple…

Methodology · Statistics 2020-02-10 Silvia Giulia Galfre' , Francesco Morandin

RNA-Seq is a widely-used method for studying the behavior of genes under different biological conditions. An essential step in an RNA-Seq study is normalization, in which raw data are adjusted to account for factors that prevent direct…

Genomics · Quantitative Biology 2016-09-06 Ciaran Evans , Johanna Hardin , Daniel Stoebel

Single-cell RNA-sequencing (scRNA-seq) stands as a powerful tool for deciphering cellular heterogeneity and exploring gene expression profiles at high resolution. However, its high cost renders it impractical for extensive sample cohorts…

Recent advances in high-throughput cDNA sequencing (RNA-Seq) technology have revolutionized transcriptome studies. A major motivation for RNA-Seq is to map the structure of expressed transcripts at nucleotide resolution. With accurate…

Genomics · Quantitative Biology 2013-09-23 Georg Zeller , Nico Goernitz , Andre Kahles , Jonas Behr , Pramod Mudrakarta , Soeren Sonnenburg , Gunnar Raetsch

In line with the importance of RNA-seq, the bioinformatics community has produced numerous data analysis tools incorporating methods to correct sample-specific biases. However, few advanced simulation tools exist to enable benchmarking of…

Genomics · Quantitative Biology 2013-08-15 Botond Sipos , Greg Slodkowicz , Tim Massingham , Nick Goldman

Although bulk transcriptomic analyses have significantly contributed to an enhanced comprehension of multifaceted diseases, their exploration capacity is impeded by the heterogeneous compositions of biological samples. Indeed, by averaging…

Quantitative Methods · Quantitative Biology 2023-10-24 Bastien Chassagnol , Grégory Nuel , Etienne Becht

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

Massively parallel sequencing techniques have revolutionized biological and medical sciences by providing unprecedented insight into the genomes of humans, animals, and microbes. Modern sequencing platforms generate enormous amounts of…

We are in the era where the Big Data analytics has changed the way of interpreting the various biomedical phenomena, and as the generated data increase, the need for new machine learning methods to handle this evolution grows. An indicative…

Machine Learning · Computer Science 2020-12-04 Panagiotis Anagnostou , Petros T. Barmbas , Aristidis G. Vrahatis , Sotiris K. Tasoulis

Identification and quantification of condition-specific transcripts using RNA-Seq is vital in transcriptomics research. While initial efforts using mathematical or statistical modeling of read counts or per-base exonic signal have been…

Quantitative Methods · Quantitative Biology 2013-02-26 Tin Chi Nguyen , Nan Deng , Dongxiao Zhu

Single-cell RNA sequencing (scRNA-seq) technology enables systematic delineation of cellular states and interactions, providing crucial insights into cellular heterogeneity. Building on this potential, numerous computational methods have…

Genomics · Quantitative Biology 2025-11-11 Ping Xu , Zaitian Wang , Zhirui Wang , Pengjiang Li , Ran Zhang , Gaoyang Li , Hanyu Xie , Jiajia Wang , Yuanchun Zhou , Pengfei Wang