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Noisy Splicing Drives mRNA Isoform Diversity in Human Cells

https://doi.org/10.1371/journal.pgen.1001236
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59/59 checkable references clean · checked 2026-07-24

Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.

2 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.

The 59 checked references that resolve
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Impact of Alternative Initiation, Splicing, and Termination on the Diversity of the mRNA Transcripts Encoded by the Mouse Transcriptome
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resolves10.1038/ng.259
Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
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A genomic view of alternative splicing
resolves10.1186/jbiol113
Evolutionary genomics and the reach of selection
resolves10.1093/nar/gkp471
Stochastic noise in splicing machinery
resolves10.1016/j.tig.2007.08.001
Evolutionary impact of limited splicing fidelity in mammalian genes
resolves10.1073/pnas.0506139102
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resolves10.1016/j.tig.2003.12.004
How prevalent is functional alternative splicing in the human genome?
resolves10.1073/pnas.0409742102
Identification and analysis of alternative splicing events conserved in human and mouse
resolves10.1038/ng1159
Alternative splicing in the human, mouse and rat genomes is associated with an increased frequency of exon creation and/or loss
resolves10.1038/nature06495
Translational control of intron splicing in eukaryotes
resolves10.1073/pnas.0912629107
Rate, molecular spectrum, and consequences of human mutation
resolves10.1038/nature08872
Understanding mechanisms underlying human gene expression variation with RNA sequencing
resolves10.1126/science.1160342
A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome
resolves10.1101/gr.079558.108
RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays
resolves10.1261/rna.151106
Genomic splice-site analysis reveals frequent alternative splicing close to the dominant splice site
resolves10.1371/journal.pgen.0020045
A Simple Physical Model Predicts Small Exon Length Variations
resolves10.1016/j.tig.2008.03.003
Widespread and subtle: alternative splicing at short-distance tandem sites
resolves10.1093/bioinformatics/btl048
The UCSC Known Genes
resolves10.1093/nar/gkn828
Ensembl 2009
resolves10.1093/nar/gkl842
NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins
resolves10.1101/gr.080531.108
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
resolves10.1093/nar/gkp1024
GenBank
resolves10.1038/nature08903
Transcriptome genetics using second generation sequencing in a Caucasian population
resolves10.1038/ng.2007.57
Genome-wide analysis of transcript isoform variation in humans
resolves10.1101/gr.083477.108
Common polymorphic transcript variation in human disease
resolves10.1101/gr.097857.109
Detection of nonneutral substitution rates on mammalian phylogenies
resolves10.1038/ng940
Selection for short introns in highly expressed genes
resolves10.1016/S0168-9525(99)01832-6
Small introns tend to occur in GC-rich regions in some but not all vertebrates
resolves10.1016/j.cell.2008.10.046
Dynamic Regulation of Alternative Splicing by Silencers that Modulate 5′ Splice Site Competition
resolves10.1126/science.1073774
Predictive Identification of Exonic Splicing Enhancers in Human Genes
resolves10.1261/rna.876308
Splicing regulation: From a parts list of regulatory elements to an integrated splicing code
resolves10.1038/nrm1645
Understanding alternative splicing: towards a cellular code
resolves10.1038/nature09000
Deciphering the splicing code
resolves10.1101/gad.1195304
Computational definition of sequence motifs governing constitutive exon splicing
resolves10.1016/j.cell.2004.11.010
Systematic Identification and Analysis of Exonic Splicing Silencers
resolves10.1126/science.1184208
Regulation of Alternative Splicing by Histone Modifications
resolves10.1016/j.molcel.2009.10.008
Biased Chromatin Signatures around Polyadenylation Sites and Exons
resolves10.1038/nsmb.1659
Chromatin organization marks exon-intron structure
resolves10.1038/nsmb.1658
Nucleosome positioning as a determinant of exon recognition
resolves10.1101/gr.092353.109
Nucleosomes are well positioned in exons and carry characteristic histone modifications
resolves10.1038/ng.322
Differential chromatin marking of introns and expressed exons by H3K36me3
resolves10.1371/journal.pbio.0050014
Splicing and the Evolution of Proteins in Mammals
resolves10.1073/pnas.0801692105
RNA landscape of evolution for optimal exon and intron discrimination
resolves10.1261/rna.1024908
The effect of intron length on exon creation ratios during the evolution of mammalian genomes
resolves10.1073/pnas.0508489102
The architecture of pre-mRNAs affects mechanisms of splice-site pairing
resolves10.1038/43827
Intron size and natural selection
resolves10.1073/pnas.092595699
Intron evolution as a population-genetic process
resolves10.1093/nar/gkl924
Different levels of alternative splicing among eukaryotes
resolves10.1093/bioinformatics/btp120
TopHat: discovering splice junctions with RNA-Seq
resolves10.1038/nbt.1621
Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
resolves10.1038/nbt.1633
Ab initio reconstruction of cell type–specific transcriptomes in mouse reveals the conserved multi-exonic structure of lincRNAs
resolves10.1186/gb-2010-11-3-r34
Global and unbiased detection of splice junctions from RNA-seq data
resolves10.1093/nar/gkq211
Detection of splice junctions from paired-end RNA-seq data by SpliceMap
resolves10.1073/pnas.0812841106
Ab initio construction of a eukaryotic transcriptome by massively parallel mRNA sequencing
resolves10.1093/bioinformatics/btp324
Fast and accurate short read alignment with Burrows–Wheeler transform
The 2 references without a DOI — listed, not checked
no DOI — not checkedThe origins of genome architecture.
no DOI — not checkedDynamic transcriptomes during neural differentiation of human embryonic stem cells revealed by short, long, and paired-end sequencing.
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