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RNA sequencing (RNA-seq) is the conventional genome-scale approach used to capture the expression levels of all detectable genes in a biological sample. This is now regularly used for population-based studies designed to identify genetic…

Genomics · Quantitative Biology 2026-05-25 Christopher Thron , Farhad Jafari

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…

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 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…

Genomics · Quantitative Biology 2012-10-11 Barbara Rakitsch , Christoph Lippert , Hande Topa , Karsten Borgwardt , Antti Honkela , Oliver Stegle

We propose a probabilistic model for interpreting gene expression levels that are observed through single-cell RNA sequencing. In the model, each cell has a low-dimensional latent representation. Additional latent variables account for…

Machine Learning · Computer Science 2017-10-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

To survive environmental conditions, cells transcribe their response activities into encoded mRNA sequences in order to produce certain amounts of protein concentrations. The external conditions are mapped into the cell through the…

Biological Physics · Physics 2017-10-26 Andrés F. López-Lopera , Mauricio A. Álvarez

High-throughput RNA sequencing (RNA-seq) is now the standard method to determine differential gene expression. Identifying differentially expressed genes crucially depends on estimates of read count variability. These estimates are…

We propose a probabilistic model for interpreting gene expression levels that are observed through single-cell RNA sequencing. In the model, each cell has a low-dimensional latent representation. Additional latent variables account for…

Machine Learning · Computer Science 2018-01-18 Romain Lopez , Jeffrey Regier , Michael Cole , Michael Jordan , Nir Yosef

Contrastive dimension reduction methods have been developed for case-control study data to identify variation that is enriched in the foreground (case) data X relative to the background (control) data Y. Here, we develop contrastive…

Methodology · Statistics 2024-01-09 Boyang Zhang , Sarah Nyquist , Andrew Jones , Barbara E. Engelhardt , Didong Li

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) is a widely used method for quantifying gene expression levels due to its low cost, high accuracy and wide dynamic range for detection. However, the nature of RNA-Seq makes it…

Methodology · Statistics 2016-08-30 Hui Jiang , Tianyu Zhan

A popular approach for comparing gene expression levels between (replicated) conditions of RNA sequencing data relies on counting reads that map to features of interest. Within such count-based methods, many flexible and advanced…

Quantitative Methods · Quantitative Biology 2014-03-17 Xiaobei Zhou , Helen Lindsay , Mark D. Robinson

In the analysis of single-cell RNA sequencing data, researchers often characterize the variation between cells by estimating a latent variable, such as cell type or pseudotime, representing some aspect of the individual cell's state. They…

Methodology · Statistics 2022-10-19 Anna Neufeld , Lucy L. Gao , Joshua Popp , Alexis Battle , Daniela Witten

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…

Machine Learning · Computer Science 2023-10-18 Philip Fradkin , Ruian Shi , Bo Wang , Brendan Frey , Leo J. Lee

Recently, ultra high-throughput sequencing of RNA (RNA-Seq) has been developed as an approach for analysis of gene expression. By obtaining tens or even hundreds of millions of reads of transcribed sequences, an RNA-Seq experiment can offer…

Methodology · Statistics 2011-06-17 Julia Salzman , Hui Jiang , Wing Hung Wong

In many transcriptomic studies, the correlation of genes might fluctuate with quantitative factors such as genetic ancestry. We propose a method that models the covariance between two variables to vary against a continuous covariate. For…

Methodology · Statistics 2021-05-03 Tae Hyun Kim , Dan Nicolae

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.…

RNA-Seq is rapidly becoming the standard technology for transcriptome analysis. Fundamental to many of the applications of RNA-Seq is the quantification problem, which is the accurate measurement of relative transcript abundances from the…

Genomics · Quantitative Biology 2011-05-16 Lior Pachter

Background: Since the invention of next-generation RNA sequencing (RNA-seq) technologies, they have become a powerful tool to study the presence and quantity of RNA molecules in biological samples and have revolutionized transcriptomic…

Genomics · Quantitative Biology 2021-12-01 Wei Vivian Li , Jingyi Jessica Li

Recent advances in molecular biology allow the quantification of the transcriptome and scoring transcripts as differentially or equally expressed between two biological conditions. Although these two tasks are closely linked, the available…

Methodology · Statistics 2017-02-08 Panagiotis Papastamoulis , Magnus Rattray

The functions of proteins and RNAs are determined by a myriad of interactions between their constituent residues, but most quantitative models of how molecular phenotype depends on genotype must approximate this by simple additive effects.…

Quantitative Methods · Quantitative Biology 2017-12-19 Adam J. Riesselman , John B. Ingraham , Debora S. Marks
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