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Related papers: Statistical Modeling of RNA-Seq Data

200 papers

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…

Genomics · Quantitative Biology 2016-06-03 Stephen W. Hartley , James C. Mullikin

The advancement of single-cell RNA-sequencing (scRNA-seq) technologies allow us to study the individual level cell-type-specific gene expression networks by direct inference of genes' conditional independence structures. scRNA-seq data…

Methodology · Statistics 2024-09-20 Changhao Ge , Hongzhe Li

Single-cell RNA sequencing (scRNA-seq) enables single-cell transcriptomic profiling, revealing cellular heterogeneity and rare populations. Recent deep learning models like Geneformer and Mouse-Geneformer perform well on tasks such as…

Genomics · Quantitative Biology 2025-07-11 Yuki Nishio , Takayoshi Yamashita , Keita Ito , Tsubasa Hirakawa , Hironobu Fujiyoshi

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

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

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

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…

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

Background: Single-cell RNA sequencing (scRNA-seq) enables gene expression profiling at cellular resolution but is inherently affected by sparsity caused by dropout events, where expressed genes are recorded as zeros due to technical…

Genomics · Quantitative Biology 2026-04-15 Yuichiro Iwashita , Ahtisham Fazeel Abbasi , Koichi Kise , Andreas Dengel , Muhammad Nabeel Asim

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

Next-generation sequencing technologies now constitute a method of choice to measure gene expression. Data to analyze are read counts, commonly modeled using Negative Binomial distributions. A relevant issue associated with this…

Methodology · Statistics 2014-11-10 Elisabetta Bonafede , Franck Picard , Stéphane Robin , Cinzia Viroli

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level.…

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

High-throughput transcriptomics experiments have reached the stage where the count of the number of reads alignable to a given position can be treated as an almost-continuous signal. This allows to ask questions of biophysical/biotechnical…

Genomics · Quantitative Biology 2014-10-02 Nicolas Innocenti , Erik Aurell

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…

Genomics · Quantitative Biology 2023-04-26 Sara Ghazanfari , Ali Rasteh , Seyed Abolfazl Motahari , Mahdieh Soleymani Baghshah

The number of studies dealing with RNA-Seq data analysis has experienced a fast increase in the past years making this type of gene expression a strong competitor to the DNA microarrays. This paper proposes a Bayesian model to detect down…

Applications · Statistics 2019-11-05 Vinícius D. Mayrink , Flávio B. Gonçalves

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…

Next-generation sequencing (NGS) technologies allow new methodologies for alternative splicing (AS) analysis. Current computational methods for AS from NGS data are mainly focused on predicting splice site junctions or de novo assembly of…

Genomics · Quantitative Biology 2012-08-15 Stefano Beretta , Paola Bonizzoni , Gianluca Della Vedova , Raffaella Rizzi

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

Motivation: Single-cell RNA sequencing (scRNA-seq) is a groundbreaking technology extensively utilized in biological research, facilitating the examination of gene expression at the individual cell level within a given tissue sample. While…

Machine Learning · Computer Science 2024-04-10 Shengze Dong , Zhuorui Cui , Ding Liu , Jinzhi Lei