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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

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

Transcription of genes is the focus of most forms of regulation of gene expression. Even though careful biochemical experimentation has revealed the molecular mechanisms of transcription initiation for a number of different promoters in…

Molecular Networks · Quantitative Biology 2018-10-17 Sandeep Choubey , Jane Kondev , Alvaro Sanchez

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

High-throughput mRNA sequencing (RNA-Seq) is widely used for transcript quantification of gene isoforms. Since RNA-Seq data alone is often not sufficient to accurately identify the read origins from the isoforms for quantification, we…

Computational Engineering, Finance, and Science · Computer Science 2015-12-31 Wei Zhang , Jae-Woong Chang , Lilong Lin , Kay Minn , Baolin Wu , Jeremy Chien , Jeongsik Yong , Hui Zheng , Rui Kuang

RNA-seq allows detection and precise quantification of transcripts, provides comprehensive understanding of exon/intron boundaries, aids discovery of alternatively spliced isoforms and fusion transcripts along with measurement of…

Genomics · Quantitative Biology 2013-06-03 Prachi Jain , Neeraja M. Krishnan , Binay Panda

Noncoding RNAs are integral to a wide range of biological processes, including translation, gene regulation, host-pathogen interactions and environmental sensing. While genomics is now a mature field, our capacity to identify noncoding RNA…

In differential expression (DE) analysis of RNA-seq count data, it is known that genes with a larger read number are more likely to be differentially expressed. This bias has a profound effect on the subsequent Gene Ontology (GO) analysis…

Genomics · Quantitative Biology 2015-08-18 Sora Yoon , Dougu Nam

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…

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…

Until recently, transcriptomics was limited to bulk RNA sequencing, obscuring the underlying expression patterns of individual cells in favor of a global average. Thanks to technological advances, we can now profile gene expression across…

Quantitative Methods · Quantitative Biology 2018-11-30 Miriam Shiffman , William T. Stephenson , Geoffrey Schiebinger , Jonathan Huggins , Trevor Campbell , Aviv Regev , Tamara Broderick

The accurate quantification of gene expression levels is crucial for transcriptome study. Microarray platforms are commonly used for simultaneously interrogating thousands of genes in the past decade, and recently RNA-Seq has emerged as a…

Applications · Statistics 2014-08-01 Zhaonan Sun , Thomas Kuczek , Yu Zhu

Direct cDNA preamplification protocols developed for single-cell RNA-seq have enabled transcriptome profiling of precious clinical samples and rare cells without sample pooling or RNA extraction. Currently, there is no algorithm optimized…

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) has enabled the accurate estimation of gene expression at individual isoform level. However, systematic biases introduced during the sequencing and mapping processes as well as…

Methodology · Statistics 2013-10-02 Hui Jiang , Julia Salzman

Next-generation RNA sequencing (RNA-seq) technology has been widely used to assess full-length RNA isoform abundance in a high-throughput manner. RNA-seq data offer insight into gene expression levels and transcriptome structures, enabling…

Applications · Statistics 2021-12-01 Wei Vivian Li , Anqi Zhao , Shihua Zhang , Jingyi Jessica Li

RNA velocity is a model of gene expression dynamics designed to analyze single-cell RNA sequencing (scRNA-seq) data, and it has recently gained significant attention. However, despite its popularity, the model has raised several concerns,…

Applications · Statistics 2025-05-07 Elena Sabbioni , Enrico Bibbona , Gianluca Mastrantonio , Guido Sanguinetti

Whole transcriptome sequencing is increasingly being used as a functional genomics tool to study non- model organisms. However, when the reference transcriptome used to calculate differential expression is incomplete, significant error in…

Genomics · Quantitative Biology 2013-03-12 Alexis Black Pyrkosz , Hans Cheng , C. Titus Brown

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

Neural sentence embedding models for dense retrieval typically rely on binary relevance labels, treating query-document pairs as either relevant or irrelevant. However, real-world relevance often exists on a continuum, and recent advances…

Information Retrieval · Computer Science 2025-08-12 Christos Tsirigotis , Vaibhav Adlakha , Joao Monteiro , Aaron Courville , Perouz Taslakian

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…