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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

Motivation: Alternative splicing is an important mechanism in which the regions of pre-mRNAs are differentially joined in order to form different transcript isoforms. Alternative splicing is involved in the regulation of normal…

定量方法 · 定量生物学 2016-05-26 Hande Topa , Antti Honkela

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

Although RNA-Seq data provide unprecedented isoform-level expression information, detection of alternative isoform regulation (AIR) remains difficult, particularly when working with an incomplete transcript annotation. We introduce…

基因组学 · 定量生物学 2016-06-03 Stephen W. Hartley , James C. Mullikin

A eukaryotic gene consists of multiple exons (protein coding regions) and introns (non-coding regions), and a splice junction refers to the boundary between a pair of exon and intron. Precise identification of spice junctions on a gene is…

机器学习 · 计算机科学 2015-12-17 Byunghan Lee , Taehoon Lee , Byunggook Na , Sungroh Yoon

Change detection in remote sensing imagery is essential for applications such as urban planning, environmental monitoring, and disaster management. Traditional change detection methods typically identify all changes between two temporal…

计算机视觉与模式识别 · 计算机科学 2025-12-15 Yilmaz Korkmaz , Jay N. Paranjape , Celso M. de Melo , Vishal M. Patel

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…

基因组学 · 定量生物学 2023-11-23 Asmita Poddar , Vladimir Uzun , Elizabeth Tunbridge , Wilfried Haerty , Alejo Nevado-Holgado

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

Most existing causal discovery methods rely on the assumption of no latent confounders, limiting their applicability in solving real-life problems. In this paper, we introduce a novel, versatile framework for causal discovery that…

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

High-dimensional data are commonly seen in modern statistical applications, variable selection methods play indispensable roles in identifying the critical features for scientific discoveries. Traditional best subset selection methods are…

统计方法学 · 统计学 2022-12-29 Tianzhou Ma , Hongjie Ke , Zhao Ren

Functional or non-coding RNAs are attracting more attention as they are now potentially considered valuable resources in the development of new drugs intended to cure several human diseases. The identification of drugs targeting the…

基因组学 · 定量生物学 2019-12-25 Muhammad Nabeel Asima , Muhammad Imran Malik , Andreas Dengela , Sheraz Ahmed

Causal discovery from data affected by latent confounders is an important and difficult challenge. Causal functional model-based approaches have not been used to present variables whose relationships are affected by latent confounders,…

机器学习 · 计算机科学 2020-11-05 Takashi Nicholas Maeda , Shohei Shimizu

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

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

The state-of-the-art methods for solving optimization problems in big dimensions are variants of randomized coordinate descent (RCD). In this paper we introduce a fundamentally new type of acceleration strategy for RCD based on the…

最优化与控制 · 数学 2018-02-13 Dmitry Kovalev , Eduard Gorbunov , Elnur Gasanov , Peter Richtárik

Change detection (CD) from remote sensing (RS) images using deep learning has been widely investigated in the literature. It is typically regarded as a pixel-wise labeling task that aims to classify each pixel as changed or unchanged.…

计算机视觉与模式识别 · 计算机科学 2024-07-09 Weikang Yu , Xiaokang Zhang , Samiran Das , Xiao Xiang Zhu , Pedram Ghamisi

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

Reasoning tasks are crucial in many domains, especially in science and engineering. Although large language models (LLMs) have made progress in reasoning tasks using techniques such as chain-of-thought and least-to-most prompting, these…

人工智能 · 计算机科学 2025-05-06 Sergio Hernández-Gutiérrez , Minttu Alakuijala , Alexander V. Nikitin , Pekka Marttinen

Single-Cell RNA sequencing (scRNA-seq) measurements have facilitated genome-scale transcriptomic profiling of individual cells, with the hope of deconvolving cellular dynamic changes in corresponding cell sub-populations to better…

基因组学 · 定量生物学 2021-04-06 Seyednami Niyakan , Ehsan Hajiramezanali , Shahin Boluki , Siamak Zamani Dadaneh , Xiaoning Qian
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