Evaluation and comparison of computational tools for RNA-seq isoform quantification

Abstract Background Alternatively spliced transcript isoforms are commonly observed in higher eukaryotes. The expression levels of these isoforms are key for understanding normal functions in healthy tissues and the progression of disease states. However, accurate quantification of expression at the...

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Main Authors: Chi Zhang, Baohong Zhang, Lih-Ling Lin, Shanrong Zhao
Format: Article
Language:English
Published: BMC 2017-08-01
Series:BMC Genomics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12864-017-4002-1
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author Chi Zhang
Baohong Zhang
Lih-Ling Lin
Shanrong Zhao
author_facet Chi Zhang
Baohong Zhang
Lih-Ling Lin
Shanrong Zhao
author_sort Chi Zhang
collection DOAJ
description Abstract Background Alternatively spliced transcript isoforms are commonly observed in higher eukaryotes. The expression levels of these isoforms are key for understanding normal functions in healthy tissues and the progression of disease states. However, accurate quantification of expression at the transcript level is limited with current RNA-seq technologies because of, for example, limited read length and the cost of deep sequencing. Results A large number of tools have been developed to tackle this problem, and we performed a comprehensive evaluation of these tools using both experimental and simulated RNA-seq datasets. We found that recently developed alignment-free tools are both fast and accurate. The accuracy of all methods was mainly influenced by the complexity of gene structures and caution must be taken when interpreting quantification results for short transcripts. Using TP53 gene simulation, we discovered that both sequencing depth and the relative abundance of different isoforms affect quantification accuracy Conclusions Our comprehensive evaluation helps data analysts to make informed choice when selecting computational tools for isoform quantification.
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spelling doaj.art-be9fe4f12408405781911b93c4f3b0992022-12-22T00:34:28ZengBMCBMC Genomics1471-21642017-08-0118111110.1186/s12864-017-4002-1Evaluation and comparison of computational tools for RNA-seq isoform quantificationChi Zhang0Baohong Zhang1Lih-Ling Lin2Shanrong Zhao3Early Clinical Development, Pfizer Worldwide R&DEarly Clinical Development, Pfizer Worldwide R&DInflammation and Immunology RU, Pfizer Worldwide R&DEarly Clinical Development, Pfizer Worldwide R&DAbstract Background Alternatively spliced transcript isoforms are commonly observed in higher eukaryotes. The expression levels of these isoforms are key for understanding normal functions in healthy tissues and the progression of disease states. However, accurate quantification of expression at the transcript level is limited with current RNA-seq technologies because of, for example, limited read length and the cost of deep sequencing. Results A large number of tools have been developed to tackle this problem, and we performed a comprehensive evaluation of these tools using both experimental and simulated RNA-seq datasets. We found that recently developed alignment-free tools are both fast and accurate. The accuracy of all methods was mainly influenced by the complexity of gene structures and caution must be taken when interpreting quantification results for short transcripts. Using TP53 gene simulation, we discovered that both sequencing depth and the relative abundance of different isoforms affect quantification accuracy Conclusions Our comprehensive evaluation helps data analysts to make informed choice when selecting computational tools for isoform quantification.http://link.springer.com/article/10.1186/s12864-017-4002-1RNA-seqQuantificationIsoformData analysisRSEMSalmon
spellingShingle Chi Zhang
Baohong Zhang
Lih-Ling Lin
Shanrong Zhao
Evaluation and comparison of computational tools for RNA-seq isoform quantification
BMC Genomics
RNA-seq
Quantification
Isoform
Data analysis
RSEM
Salmon
title Evaluation and comparison of computational tools for RNA-seq isoform quantification
title_full Evaluation and comparison of computational tools for RNA-seq isoform quantification
title_fullStr Evaluation and comparison of computational tools for RNA-seq isoform quantification
title_full_unstemmed Evaluation and comparison of computational tools for RNA-seq isoform quantification
title_short Evaluation and comparison of computational tools for RNA-seq isoform quantification
title_sort evaluation and comparison of computational tools for rna seq isoform quantification
topic RNA-seq
Quantification
Isoform
Data analysis
RSEM
Salmon
url http://link.springer.com/article/10.1186/s12864-017-4002-1
work_keys_str_mv AT chizhang evaluationandcomparisonofcomputationaltoolsforrnaseqisoformquantification
AT baohongzhang evaluationandcomparisonofcomputationaltoolsforrnaseqisoformquantification
AT lihlinglin evaluationandcomparisonofcomputationaltoolsforrnaseqisoformquantification
AT shanrongzhao evaluationandcomparisonofcomputationaltoolsforrnaseqisoformquantification