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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…

Background: Since the invention of next-generation RNA sequencing (RNA-seq) technologies, they have become a powerful tool to study the presence and quantity of RNA molecules in biological samples and have revolutionized transcriptomic…

Genomics · Quantitative Biology 2021-12-01 Wei Vivian Li , Jingyi Jessica Li

RNA-Seq and gene expression microarrays provide comprehensive profiles of gene activity, but lack of reproducibility has hindered their application. A key challenge in the data analysis is the normalization of gene expression levels, which…

Populations and Evolution · Quantitative Biology 2017-03-10 Carlos P. Roca , Susana I. L. Gomes , Mónica J. B. Amorim , Janeck J. Scott-Fordsmand

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

Single-cell RNA-sequencing (scRNA-seq) has become a routinely used technique to quantify the gene expression profile of thousands of single cells simultaneously. Analysis of scRNA-seq data plays an important role in the study of cell states…

Genomics · Quantitative Biology 2022-10-13 Matthew Brendel , Chang Su , Zilong Bai , Hao Zhang , Olivier Elemento , Fei Wang

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

Detecting genetic aberrations is crucial in cancer diagnosis, typically through fluorescence in situ hybridization (FISH). However, existing FISH image classification methods face challenges due to signal variability, the need for costly…

Computer Vision and Pattern Recognition · Computer Science 2024-11-05 Simon Gutwein , Martin Kampel , Sabine Taschner-Mandl , Roxane Licandro

Background: Single-cell RNA sequencing (scRNA-seq) yields valuable insights about gene expression and gives critical information about complex tissue cellular composition. In the analysis of single-cell RNA sequencing, the annotations of…

Genomics · Quantitative Biology 2023-03-29 Xiaowen Cao , Li Xing , Elham Majd , Hua He , Junhua Gu , Xuekui Zhang

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…

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

In recent years, the advances in single-cell RNA-seq techniques have enabled us to perform large-scale transcriptomic profiling at single-cell resolution in a high-throughput manner. Unsupervised learning such as data clustering has become…

Genomics · Quantitative Biology 2020-01-07 Shixiong Zhang , Xiangtao Li , Qiuzhen Lin , Ka-Chun Wong

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

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

Motivation: Transcriptome sequencing has long been the favored method for quickly and inexpensively obtaining the sequences for a large number of genes from an organism with no reference genome. With the rapidly increasing throughputs and…

Gene expression analysis aims at identifying the genes able to accurately predict biological parameters like, for example, disease subtyping or progression. While accurate prediction can be achieved by means of many different techniques,…

Methodology · Statistics 2008-09-11 Christine De Mol , Sofia Mosci , Magali Traskine , Alessandro Verri

Single-cell RNA sequencing (scRNA-seq) provides a high throughput, quantitative and unbiased framework for scientists in many research fields to identify and characterize cell types within heterogeneous cell populations from various…

Quantitative Methods · Quantitative Biology 2022-09-28 Yeganeh Madadi , Aboozar Monavarfeshani , Hao Chen , W. Daniel Stamer , Robert W. Williams , Siamak Yousefi

The high-throughput short-reads RNA-seq protocols often produce paired-end reads, with the middle portion of the fragments being unsequenced. We explore if the full-length fragments can be computationally reconstructed from the sequenced…

Genomics · Quantitative Biology 2023-10-06 Xiang Li , Mingfu Shao

Direct cDNA preamplification protocols developed for single-cell RNA-seq have enabled transcriptome profiling of precious clinical samples and rare cells without sample pooling or RNA extraction. Currently, there is no algorithm optimized…

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

Sequencing technologies have revolutionised the field of molecular biology. We now have the ability to routinely capture the complete RNA profile in tissue samples. This wealth of data allows for comparative analyses of RNA levels at…

Methodology · Statistics 2024-07-01 Franziska Hoerbst , Gurpinder Singh Sidhu , Melissa Tomkins , Richard J. Morris