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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

Noncoding RNAs are integral to a wide range of biological processes, including translation, gene regulation, host-pathogen interactions and environmental sensing. While genomics is now a mature field, our capacity to identify noncoding RNA…

We are interested in the comparison of transcript boundaries from cells which originated in different environments. The goal is to assess whether this phenomenon, called differential splicing, is used to modify the transcription of the…

Applications · Statistics 2013-07-12 Alice Cleynen , Stéphane Robin

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…

In biological research machine learning algorithms are part of nearly every analytical process. They are used to identify new insights into biological phenomena, interpret data, provide molecular diagnosis for diseases and develop…

Isoform quantification is an important goal of RNA-seq experiments, yet it remains prob- lematic for genes with low expression or several isoforms. These difficulties may in principle be ameliorated by exploiting correlated experimental…

Genomics · Quantitative Biology 2016-02-23 Yuanhua Huang , Guido Sanguinetti

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

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

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

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…

CLIP-seq methods are valuable techniques to experimentally determine transcriptome-wide binding sites of RNA-binding proteins. Despite the constant improvement of such techniques (e.g. eCLIP), the results are affected by various types of…

Biomolecules · Quantitative Biology 2024-12-31 Gianluca Corrado , Michael Uhl , Rolf Backofen , Andrea Passerini , Fabrizio Costa

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

Second-generation sequencing technologies have replaced array-based technologies and become the default method for genomics and epigenomics analysis. Second-generation sequencing technologies sequence tens of millions of DNA/cDNA fragments…

Methodology · Statistics 2017-02-08 Ping Ma , Nan Zhang , Jianhua Z. Huang , Wenxuan Zhong

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…

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

This issue includes six articles that develop and apply statistical methods for the analysis of gene sequencing data of different types. The methods are tailored to the different data types and, in each case, lead to biological insights not…

Applications · Statistics 2012-06-29 Karen Kafadar

Most human protein-coding genes can be transcribed into multiple possible distinct mRNA isoforms. These alternative splicing patterns encourage molecular diversity and dysregulation of isoform expression plays an important role in disease…

Quantitative Methods · Quantitative Biology 2018-05-09 Derek Aguiar , Li-Fang Cheng , Bianca Dumitrascu , Fantine Mordelet , Athma A Pai , Barbara E Engelhardt

Nanopore sequencing technology has the potential to render other sequencing technologies obsolete with its ability to generate long reads and provide portability. However, high error rates of the technology pose a challenge while generating…

Genomics · Quantitative Biology 2019-12-20 Damla Senol Cali , Jeremie S. Kim , Saugata Ghose , Can Alkan , Onur Mutlu

In the face of rapidly accumulating genomic data, our understanding of the RNA regulatory code remains incomplete. Recent self-supervised methods in other domains have demonstrated the ability to learn rules underlying the data-generating…

Machine Learning · Computer Science 2023-10-18 Philip Fradkin , Ruian Shi , Bo Wang , Brendan Frey , Leo J. Lee

We present a new algorithm for enumerating bubbles with length constraints in directed graphs. This problem arises in transcriptomics, where the question is to identify all alternative splicing events present in a sample of mRNAs sequenced…

Quantitative Methods · Quantitative Biology 2013-08-02 Gustavo Sacomoto , Vincent Lacroix , Marie-France Sagot