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The study of functional genomics--particularly in non-model organisms has been dramatically improved over the last few years by use of transcriptomes and RNAseq. While these studies are potentially extremely powerful, a computationally…

Genomics · Quantitative Biology 2013-07-25 Matthew D MacManes , Michael B Eisen

Current popular methods in literature of RNA sequencing normalisation do not account for gene length when compared across samples, whilst adjusting for count biases in the data. This creates a gap in the normalisation as bigger genes in RNA…

Other Quantitative Biology · Quantitative Biology 2022-09-02 Hilbert Lam Yuen In , Robbe Pincket

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

RNA sequencing (RNA-seq) enables characterization and quantification of individual transcriptomes as well as detection of patterns of allelic expression and alternative splicing. Current RNA-seq protocols depend on high-throughput…

Genomics · Quantitative Biology 2015-06-19 Hyunghoon Cho , Joe Davis , Xin Li , Kevin S. Smith , Alexis Battle , Stephen B. Montgomery

Transcriptome assembly from RNA-Seq reads is an active area of bioinformatics research. The ever-declining cost and the increasing depth of RNA-Seq have provided unprecedented opportunities to better identify expressed transcripts. However,…

Computational Engineering, Finance, and Science · Computer Science 2013-06-07 Tin Chi Nguyen , Zhiyu Zhao , Dongxiao Zhu

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

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

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

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

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

While most current high-throughput DNA sequencing technologies generate short reads with low error rates, emerging sequencing technologies generate long reads with high error rates. A basic question of interest is the tradeoff between read…

Information Theory · Computer Science 2015-01-27 Ilan Shomorony , Thomas Courtade , David Tse

Transcriptomic analysis are characterized by being not directly quantitative and only providing relative measurements of expression levels up to an unknown individual scaling factor. This difficulty is enhanced for differential expression…

Methodology · Statistics 2021-03-24 Dorota Desaulle , Céline Hoffmann , Bernard Hainque , Yves Rozenholc

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

Motivation: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls…

Genomics · Quantitative Biology 2018-07-27 Heng Li

The high-throughput short-reads RNA-seq protocols often produce paired-end reads, with the middle portion of the fragments being unsequenced. We explore if the full-length fragments can be computationally reconstructed from the sequenced…

Genomics · Quantitative Biology 2023-10-06 Xiang Li , Mingfu Shao

High-throughput transcriptomics experiments have reached the stage where the count of the number of reads alignable to a given position can be treated as an almost-continuous signal. This allows to ask questions of biophysical/biotechnical…

Genomics · Quantitative Biology 2014-10-02 Nicolas Innocenti , Erik Aurell

Accurate sample classification using transcriptomics data is crucial for advancing personalized medicine. Achieving this goal necessitates determining a suitable sample size that ensures adequate statistical power without undue resource…

Methodology · Statistics 2024-09-11 Yunhui Qi , Xinyi Wang , Li-Xuan Qin

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

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…

Genes with similar transcriptional activation kinetics can display very different temporal mRNA profiles due to differences in transcription time, degradation rate and RNA processing kinetics. Recent studies have shown that a…

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