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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…

We consider the correction of errors from nucleotide sequences produced by next-generation targeted amplicon sequencing. The next-generation sequencing (NGS) platforms can provide a great deal of sequencing data thanks to their high…

Genomics · Quantitative Biology 2017-07-05 Byunghan Lee , Taesup Moon , Sungroh Yoon , Tsachy Weissman

Although bulk transcriptomic analyses have significantly contributed to an enhanced comprehension of multifaceted diseases, their exploration capacity is impeded by the heterogeneous compositions of biological samples. Indeed, by averaging…

Quantitative Methods · Quantitative Biology 2023-10-24 Bastien Chassagnol , Grégory Nuel , Etienne Becht

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

Identifying differentially expressed (DE) genes associated with a sample characteristic is the primary objective of many microarray studies. As more and more studies are carried out with observational rather than well controlled…

Applications · Statistics 2012-07-02 Xi Kathy Zhou , Fei Liu , Andrew J. Dannenberg

Single-cell RNA sequencing (scRNA-seq) provides unprecedented insights into cellular heterogeneity, enabling detailed analysis of complex biological systems at single-cell resolution. However, the high dimensionality and technical noise…

Genomics · Quantitative Biology 2025-09-04 Hojjat Torabi Goudarzi , Maziyar Baran Pouyan

We develop statistically based methods to detect single nucleotide DNA mutations in next generation sequencing data. Sequencing generates counts of the number of times each base was observed at hundreds of thousands to billions of genome…

Applications · Statistics 2012-10-01 Omkar Muralidharan , Georges Natsoulis , John Bell , Hanlee Ji , Nancy R. 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

Differential expression (DE) analysis is a key task in RNA-seq studies, aiming to identify genes with expression differences across conditions. A central challenge is balancing false discovery rate (FDR) control with statistical power.…

Methodology · Statistics 2026-04-03 Chenxin Jiang , Changhu Wang , Jingyi Jessica Li

Detecting differences in gene expression is an important part of single-cell RNA sequencing experiments, and many statistical methods have been developed for this aim. Most differential expression analyses focus on comparing expression…

Motivation: The mapping of RNA-seq reads to their transcripts of origin is a fundamental task in transcript expression estimation and differential expression scoring. Where ambiguities in mapping exist due to transcripts sharing sequence,…

Genomics · Quantitative Biology 2015-01-28 James Hensman , Peter Glaus , Antti Honkela , Magnus Rattray

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…

Four reasons why you might wish to read this paper: 1. We have devised a new statistical T test to determine differentially expressed genes (DEG) in the context of microarray experiments. This statistical test adds a new member to the…

Quantitative Methods · Quantitative Biology 2007-05-23 Shu-Dong Zhang , Timothy W. Gant

Since its selection as the method of the year in 2013, single-cell technologies have become mature enough to provide answers to complex research questions. With the growth of single-cell profiling technologies, there has also been a…

The standard methods for detecting differential gene expression are mostly designed for analyzing a single gene expression experiment. When data from multiple related gene expression studies are available, separately analyzing each study is…

Methodology · Statistics 2013-11-07 Yingying Wei , Hongkai Ji

With the increased affordability and availability of whole-genome sequencing, large-scale and high-throughput gene expression is widely used to characterize diseases, including cancers. However, establishing specificity in cancer diagnosis…

Machine Learning · Statistics 2018-12-21 Xi Chen , Jin Xie , Qingcong Yuan

There is a critical need for standard approaches to assess, report, and compare the technical performance of genome-scale differential gene expression experiments. We assess technical performance with a proposed "standard" dashboard of…

Single-cell RNA sequencing (scRNA-seq) provides a high throughput, quantitative and unbiased framework for scientists in many research fields to identify and characterize cell types within heterogeneous cell populations from various…

Quantitative Methods · Quantitative Biology 2022-09-28 Yeganeh Madadi , Aboozar Monavarfeshani , Hao Chen , W. Daniel Stamer , Robert W. Williams , Siamak Yousefi

Single-cell RNA sequencing (scRNA-seq) has emerged as a transformative technology, offering unparalleled insights into the intricate landscape of cellular diversity and gene expression dynamics. The analysis of scRNA-seq data poses…

Molecular Networks · Quantitative Biology 2023-12-19 Hongsong Feng , Sean Cottrell , Yuta Hozumi , Guo-Wei Wei

In single-cell RNA sequencing (scRNA-seq) analysis, a key challenge is inferring hidden cellular dynamics from static cell snapshots. Various computational methods have been developed to address this, focusing on perspectives like…

Genomics · Quantitative Biology 2024-09-04 Qingyang Wang , Zhiqian Zhai , Qiuyu Lian , Dongyuan Song , Jingyi Jessica Li