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Related Concept Videos

RNA-seq03:21

RNA-seq

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Improving Small RNA-seq: Less Bias and Better Detection of 2'-O-Methyl RNAs
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Handling multi-mapped reads in RNA-seq.

Gabrielle Deschamps-Francoeur1, Joël Simoneau1, Michelle S Scott1

  • 1Département de Biochimie et Génomique Fonctionnelle, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Sherbrooke, QC J1E 4K8, Canada.

Computational and Structural Biotechnology Journal
|July 9, 2020
PubMed
Summary
This summary is machine-generated.

Eukaryotic genomes contain many duplicated sequences that complicate RNA sequencing (RNA-seq) analysis. This review explores computational strategies to accurately quantify gene and transcript abundance despite these challenges.

Keywords:
Duplicated genesExpectation–maximization algorithmGene isoformsMulti-mapped readsNoncoding RNAsRNA-seq

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Area of Science:

  • Genomics
  • Bioinformatics
  • Molecular Biology

Background:

  • Eukaryotic genomes are rich in duplicated sequences arising from various mechanisms like recombination and retrotransposition.
  • These repetitive elements complicate accurate gene and transcript quantification in RNA sequencing (RNA-seq) due to multi-mapped reads.
  • Different RNA biotypes exhibit varying degrees of sequence duplication, impacting quantification strategies.

Purpose of the Study:

  • To review the mechanisms driving sequence duplication in eukaryotic genomes.
  • To discuss the impact of duplicated sequences on RNA-seq analysis and gene quantification.
  • To explore existing and needed computational strategies for handling multi-mapped reads.

Main Methods:

  • Literature review of studies on genome duplication and RNA-seq analysis.
  • Analysis of computational approaches for multi-mapped read resolution.
  • Comparison of strategies for short and long RNA biotype quantification.

Main Results:

  • Sequence duplication arises from recombination, whole genome duplication, and retrotransposition.
  • Multi-mapped reads from repetitive sequences pose significant challenges for accurate gene/transcript quantification.
  • Dissimilar sequence similarity across RNA biotypes necessitates distinct quantification tools.

Conclusions:

  • Effective handling of multi-mapped reads is crucial for improving RNA-seq quantification accuracy.
  • Further development of computational tools is needed to address the complexities of duplicated sequences in diverse RNA biotypes.
  • Overcoming challenges in quantifying genes within repetitive genomic regions remains an active area of research.