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A single gene can encode for different protein versions through a process called alternative splicing. Since proteins play major roles in cellular functions, aberrant splicing profiles can result in a variety of diseases, including cancers.…

基因组学 · 定量生物学 2021-03-09 Alvin Chan , Anna Korsakova , Yew-Soon Ong , Fernaldo Richtia Winnerdy , Kah Wai Lim , Anh Tuan Phan

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…

基因组学 · 定量生物学 2024-09-10 Ben J Draper , Mark J Dunning , David C James

Genes with similar transcriptional activation kinetics can display very different temporal mRNA profiles due to differences in transcription time, degradation rate and RNA processing kinetics. Recent studies have shown that a…

Isoforms are mRNAs produced from the same gene site in the phenomenon called Alternative Splicing. Studies have shown that more than 95% of human multi-exon genes have undergone alternative splicing. Although there are few changes in mRNA…

基因组学 · 定量生物学 2023-04-26 Sara Ghazanfari , Ali Rasteh , Seyed Abolfazl Motahari , Mahdieh Soleymani Baghshah

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…

基因组学 · 定量生物学 2012-10-11 Barbara Rakitsch , Christoph Lippert , Hande Topa , Karsten Borgwardt , Antti Honkela , Oliver Stegle

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…

应用统计 · 统计学 2013-07-12 Alice Cleynen , Stéphane Robin

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…

基因组学 · 定量生物学 2009-11-10 Kevin Cahill

RNA-sequencing has revolutionized biomedical research and, in particular, our ability to study gene alternative splicing. The problem has important implications for human health, as alternative splicing may be involved in malfunctions at…

应用统计 · 统计学 2015-12-11 David Rossell , Camille Stephan-Otto Attolini , Manuel Kroiss , Almond Stöcker

Alternative splicing of gene transcripts greatly expands the functional capacity of the genome, and certain splice isoforms may indicate specific disease states such as cancer. Splice junction microarrays interrogate thousands of splice…

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…

基因组学 · 定量生物学 2025-09-23 Siying Yang , Neng Huang , Heng Li

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…

分子网络 · 定量生物学 2015-01-19 Panagiotis Papasaikas , J. Ramon Tejedor , Luisa Vigevani , Juan Valcarcel

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…

基因组学 · 定量生物学 2015-06-19 Hyunghoon Cho , Joe Davis , Xin Li , Kevin S. Smith , Alexis Battle , Stephen B. Montgomery

In higher eukaryotes, alternative splicing is usually regulated by protein factors, which bind to the pre-mRNA and affect the recognition of splicing signals. There is recent evidence that the secondary structure of the pre-mRNA may also…

定量方法 · 定量生物学 2015-10-12 Mireya Plass , Eduardo Eyras

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…

机器学习 · 计算机科学 2023-10-18 Philip Fradkin , Ruian Shi , Bo Wang , Brendan Frey , Leo J. Lee

The development of novel high-throughput sequencing (HTS) methods for RNA (RNA-Seq) has provided a very powerful mean to study splicing under multiple conditions at unprecedented depth. However, the complexity of the information to be…

基因组学 · 定量生物学 2015-08-03 Gael P. Alamancos , Eneritz Agirre , Eduardo Eyras

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…

基因组学 · 定量生物学 2026-05-25 Christopher Thron , Farhad Jafari

Genome-wide gene expression profiles, as measured with microarrays or RNA-Seq experiments, have revolutionized biological and biomedical research by providing a quantitative measure of the entire mRNA transcriptome. Typically, researchers…

应用统计 · 统计学 2013-08-01 Neil R. Clark , Kevin Hu , Edward Y. Chen , Qioanan Duan , Avi Ma`ayan

Trans-splicing of leader sequences onto the 59ends of mRNAs is a widespread phenomenon in protozoa, nematodes and some chordates. Using parallel sequencing we have developed a method to simultaneously map 59splice sites and analyze the…

The regulatory process of Drosophila is thoroughly studied for understanding a great variety of biological principles. While pattern-forming gene networks are analysed in the transcription step, post-transcriptional events (e.g.…

机器学习 · 统计学 2021-11-04 Andrés F. López-Lopera , Nicolas Durrande , Mauricio A. Alvarez

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…

定量方法 · 定量生物学 2013-08-02 Gustavo Sacomoto , Vincent Lacroix , Marie-France Sagot
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