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RNA sequencing (RNA-seq) is the conventional genome-scale approach used to capture the expression levels of all detectable genes in a biological sample. This is now regularly used for population-based studies designed to identify genetic…

Genomics · Quantitative Biology 2026-05-25 Christopher Thron , Farhad Jafari

Background: High-throughput techniques bring novel tools but also statistical challenges to genomic research. Identifying genes with differential expression between different species is an effective way to discover evolutionarily conserved…

Methodology · Statistics 2018-10-05 Yan Zhou , Jiadi Zhu , Tiejun Tong , Junhui Wang , Bingqing Lin , Jun Zhang

Since its selection as the method of the year in 2013, single-cell technologies have become mature enough to provide answers to complex research questions. With the growth of single-cell profiling technologies, there has also been a…

Single-cell RNA sequencing (scRNA-seq) is powerful technology that allows researchers to understand gene expression patterns at the single-cell level. However, analysing scRNA-seq data is challenging due to issues and biases in data…

Genomics · Quantitative Biology 2023-12-14 Jinlu Liu , Sara Wade , Natalia Bochkina

Long non-coding RNAs (lncRNAs) are a class of non-coding RNAs which play a significant role in several biological processes. RNA-seq based transcriptome sequencing has been extensively used for identification of lncRNAs. However, accurate…

Genomics · Quantitative Biology 2019-02-15 S. Deshpande , J. Shuttleworth , J. Yang , S. Taramonli , M. England

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

Background and Objective: The massive parallel sequencing technology facilitates new discoveries in terms of transcript differential analysis; however, all the new findings must be validated, since the diversity of transcript expression may…

Alternative splicing allows an organism to make different proteins in different cells at different times, all from the same gene. In a cell that uses alternative splicing, the total length of all the exons is much shorter than in a cell…

Genomics · Quantitative Biology 2009-11-10 Kevin Cahill

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

Gene set analysis, a popular approach for analyzing high-throughput gene expression data, aims to identify sets of related genes that show significantly enriched or depleted expression patterns between different conditions. In the last…

Artificial RNA molecules with novel functionality have many applications in synthetic biology, pharmacy and white biotechnology. The de novo design of such devices using computational methods and prediction tools is a resource-efficient…

Biomolecules · Quantitative Biology 2019-05-13 Stefan Hammer , Christian Günzel , Mario Mörl , Sven Findeiß

With ongoing developments and innovations in single-cell RNA sequencing methods, advancements in sequencing performance could empower significant discoveries as well as new emerging possibilities to address biological and medical…

Applications · Statistics 2019-12-19 Jiawei Long , Yu Xia

Splice sites play a crucial role in gene expression, and accurate prediction of these sites in DNA sequences is essential for diagnosing and treating genetic disorders. We address the challenge of splice site prediction by introducing…

Genomics · Quantitative Biology 2023-11-23 Asmita Poddar , Vladimir Uzun , Elizabeth Tunbridge , Wilfried Haerty , Alejo Nevado-Holgado

Pre-mRNA splicing relies on the poorly understood dynamic interplay between >150 protein components of the spliceosome. The steps at which splicing can be regulated remain largely unknown. We systematically analyzed the effect of knocking…

Molecular Networks · Quantitative Biology 2015-01-19 Panagiotis Papasaikas , J. Ramon Tejedor , Luisa Vigevani , Juan Valcarcel

The use of deep learning models in computational biology has increased massively in recent years, and it is expected to continue with the current advances in the fields such as Natural Language Processing. These models, although able to…

Motivation: Spliced alignment refers to the alignment of messenger RNA (mRNA) or protein sequences to eukaryotic genomes. It plays a critical role in gene annotation and the study of gene functions. Accurate spliced alignment demands…

Genomics · Quantitative Biology 2025-09-23 Siying Yang , Neng Huang , Heng Li

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

RNA-seq has become a de facto standard for measuring gene expression. Traditionally, RNA-seq experiments are mathematically averaged -- they sequence the mRNA of individuals from different treatment groups, hoping to correlate phenotype…

Quantitative Methods · Quantitative Biology 2013-09-05 Surojit Biswas , Yash N. Agrawal , Tatiana S. Mucyn , Jeffery L. Dangl , Corbin D. Jones

Bioinformatics encompass storing, analyzing and interpreting the biological data. Most of the challenges for Machine Learning methods like Cellular Automata is to furnish the functional information with the corresponding biological…

Computational Engineering, Finance, and Science · Computer Science 2014-04-25 Pokkuluri Kiran Sree , Inampudi Ramesh Babu , SSSN Usha Devi N

Alternative splicing creates complex bubbles in splicing graphs where more than two transcript paths compete, challenging methods designed for simple binary events. We present a unified framework that compares paths using distinct exonic…

Genomics · Quantitative Biology 2025-11-11 Daniel Witoslawski , Jelard Aquino , Chuanchuan He , Mira V. Han