Analysis and design of RNA sequencing experiments for identifying isoform regulation
Open accessAbstract
Through alternative splicing, most human genes express multiple isoforms that often differ in function. To infer isoform regulation from high-throughput sequencing of cDNA fragments (RNA-seq), we developed the mixture-of-isoforms (MISO) model, a statistical model that estimates expression of alternatively spliced exons and isoforms and assesses confidence in these estimates. Incorporation of mRNA fragment length distribution in paired-end RNA-seq greatly improved estimation of alternative-splicing levels. MISO also detects differentially regulated exons or isoforms. Application of MISO implicated the RNA splicing factor hnRNP H1 in the regulation of alternative cleavage and polyadenylation, a role that was supported by UV cross-linking-immunoprecipitation sequencing (CLIP-seq) analysis in human cells. Our results provide a probabilistic framework for RNA-seq analysis, give functional insights into pre-mRNA processing and yield guidelines for the optimal design of RNA-seq experiments for studies of gene and isoform expression.
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Paired-end reads are preferable to single-end reads for de novo transcript discovery or isoform expression analysis.
“Furthermore, sequencing can involve single-end (SE) or paired-end (PE) reads, although the latter is preferable for de novo transcript discovery or isoform expression analysis [4, 5].”
From A survey of best practices for RNA-seq data analysis (2016) · cites this paper as [4]
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- Authors
- Katz, Y., Wang, E. T., Airoldi, E. M., & Burge, C. B.
- Affiliations
- Harvard–MIT Division of Health Sciences and Technology (US)
- Harvard University (US)
- Massachusetts Institute of Technology (US)
- Corresponding author
- Airoldi, Edoardo M
- Burge, Christopher B
- Venue
- Nature Methods
- Published
- 2010-11-07
- Volume
- 7
- Issue
- 12
- Pages
- 1009-1015
- ISSN
- 1548-7091 (ISSN-L)
- 1548-7105
- PMC
- PMC3037023
- OpenAlex
- W1575879600
- Cited by
- 1,353
- References
- 36
- Citations by year
- 2026: 26 · 2025: 52 · 2024: 68 · 2023: 69 · 2022: 71 · 2021: 127 · 2020: 113 · 2019: 104 · 2018: 128 · 2017: 102 · 2016: 123 · 2015: 119 · 2014: 112 · 2013: 69 · 2012: 51
- FWCI
- 18.10
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Methods (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion)
- PMC
- Funders
- National Science Foundation
- Colorado State University
- National Institutes of Health
- National Human Genome Research Institute (RC2HG005624, R01HG002439)
- National Institute of General Medical Sciences (R01GM096193, R01GM085319)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Single-cell and spatial transcriptomics
- Keywords
- alternative splicing, isoform regulation, paired-end sequencing, pre-mRNA processing, probabilistic-statistical model
- MeSH terms
- Base Sequence, DNA-Binding Proteins, Exons, Humans, Introns, RNA, RNA, Messenger, Alternative Splicing, Sequence Analysis, RNA, Protein Isoforms, Reverse Transcriptase Polymerase Chain Reaction, Heterogeneous-Nuclear Ribonucleoproteins, NFATC Transcription Factors
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