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Estimating and testing for differences in molecular phenotypes (e.g. gene expression, chromatin accessibility, transcription factor binding) across conditions is an important part of understanding the molecular basis of gene regulation.…

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

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

Single-cell RNA-seq data are challenging because of the sparseness of the read counts, the tiny expression of many relevant genes, and the variability in the efficiency of RNA extraction for different cells. We consider a simple…

Methodology · Statistics 2020-02-10 Silvia Giulia Galfre' , Francesco Morandin

The ability to measure the transcriptomes of single cells has only been feasible for a few years, and is becoming an extremely popular assay. While many types of analysis and questions can be answered using single cell RNA-sequencing, a…

Genomics · Quantitative Biology 2017-08-09 Valentine Svensson , Roser Vento-Tormo , Sarah A Teichmann

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

RNA-Seq is a widely-used method for studying the behavior of genes under different biological conditions. An essential step in an RNA-Seq study is normalization, in which raw data are adjusted to account for factors that prevent direct…

Genomics · Quantitative Biology 2016-09-06 Ciaran Evans , Johanna Hardin , Daniel Stoebel

Applications of single-cell RNA sequencing in various biomedical research areas have been blooming. This new technology provides unprecedented opportunities to study disease heterogeneity at the cellular level. However, unique…

Genomics · Quantitative Biology 2021-10-26 Xinlei Mi , William Bekerman , Peter A. Sims , Peter D. Canoll , Jianhua Hu

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

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

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

Single-cell RNA-seq data allow the quantification of cell type differences across a growing set of biological contexts. However, pinpointing a small subset of genomic features explaining this variability can be ill-defined and…

Machine Learning · Statistics 2022-07-29 Nabeel Sarwar , Wilson Gregory , George A Kevrekidis , Soledad Villar , Bianca Dumitrascu

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

Single cell combinatorial indexing RNA sequencing (sci-RNA-seq) is a powerful method for recovering gene expression data from an exponentially scalable number of individual cells or nuclei. However, sci-RNA-seq is a complex protocol that…

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

The identification of disease-gene associations is instrumental in understanding the mechanisms of diseases and developing novel treatments. Besides identifying genes from RNA-Seq datasets, it is often necessary to identify gene clusters…

Genomics · Quantitative Biology 2025-11-14 Jake R. Patock , Rinki Ratnapriya , Arko Barman

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

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

Multimodal single-cell technologies enable the simultaneous collection of diverse data types from individual cells, enhancing our understanding of cellular states. However, the integration of these datatypes and modeling the…

Machine Learning · Computer Science 2023-11-22 Bhavya Mehta , Nirmit Deliwala , Madhav Chandane

Next-generation sequencing technologies provide a revolutionary tool for generating gene expression data. Starting with a fixed RNA sample, they construct a library of millions of differentially abundant short sequence tags or "reads",…

Quantitative Methods · Quantitative Biology 2014-05-13 Dimitrios V. Vavoulis , Julian Gough