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Related papers: Statistical Modeling of RNA-Seq Data

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Most human protein-coding genes can be transcribed into multiple possible distinct mRNA isoforms. These alternative splicing patterns encourage molecular diversity and dysregulation of isoform expression plays an important role in disease…

Quantitative Methods · Quantitative Biology 2018-05-09 Derek Aguiar , Li-Fang Cheng , Bianca Dumitrascu , Fantine Mordelet , Athma A Pai , Barbara E Engelhardt

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

Single-cell RNA-Sequencing (scRNA-Seq) has undergone major technological advances in recent years, enabling the conception of various organism-level cell atlassing projects. With increasing numbers of datasets being deposited in public…

Single-cell RNA-sequencing (scRNA-seq) has become a routinely used technique to quantify the gene expression profile of thousands of single cells simultaneously. Analysis of scRNA-seq data plays an important role in the study of cell states…

Genomics · Quantitative Biology 2022-10-13 Matthew Brendel , Chang Su , Zilong Bai , Hao Zhang , Olivier Elemento , Fei Wang

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

RNA-Seq technology offers new high-throughput ways for transcript identification and quantification based on short reads, and has recently attracted great interest. The problem is usually modeled by a weighted splicing graph whose nodes…

Quantitative Methods · Quantitative Biology 2013-08-02 Alexandru I. Tomescu , Anna Kuosmanen , Romeo Rizzi , Veli Mäkinen

High-throughput RNA sequencing (RNA-seq) has emerged as a revolutionary and powerful technology for expression profiling. Most proposed methods for detecting differentially expressed (DE) genes from RNA-seq are based on statistics that…

Genomics · Quantitative Biology 2014-11-18 Li Zhang , Xuejun Liu , Songcan Chen

Rapidly growing public gene expression databases contain a wealth of data for building an unprecedentedly detailed picture of human biology and disease. This data comes from many diverse measurement platforms that make integrating it all…

Genomics · Quantitative Biology 2014-10-16 Karolis Uziela , Antti Honkela

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…

An important challenge in cancer systems biology is to uncover the complex network of interactions between genes (tumor suppressor genes and oncogenes) implicated in cancer. Next generation sequencing provides unparalleled ability to probe…

Genomics · Quantitative Biology 2012-12-10 Ying Cai , Bernard Fendler , Gurinder S. Atwal

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

High-throughput RNA-sequencing (RNA-seq) technologies are powerful tools for understanding cellular state. Often it is of interest to quantify and summarize changes in cell state that occur between experimental or biological conditions.…

Methodology · Statistics 2021-02-16 Andrew Jones , F. William Townes , Didong Li , Barbara E. Engelhardt

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

In this article, we review existing probabilistic models for modeling abundance of fixed-length strings (k-mers) in DNA sequencing data. These models capture dependence of the abundance on various phenomena, such as the size and repeat…

Quantitative Methods · Quantitative Biology 2022-01-03 Askar Gafurov , Tomáš Vinař , Broňa Brejová

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

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

Recent advances in high-resolution sequencing have paved the way for population-scale analysis in single-cell RNA-sequencing (scRNA-seq) data. scRNA-seq data, in particular, have proven to be extremely powerful in profiling a variety of…

Methodology · Statistics 2025-10-30 Hanxuan Ye , Zachary Qian , Hongzhe Li

Motivation: High-throughput sequencing enables expression analysis at the level of individual transcripts. The analysis of transcriptome expression levels and differential expression estimation requires a probabilistic approach to properly…

Genomics · Quantitative Biology 2012-10-10 Peter Glaus , Antti Honkela , Magnus Rattray

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

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