Abstract

The functional complexity of the human transcriptome is not yet fully elucidated. We report a high-throughput sequence of the human transcriptome from a human embryonic kidney and a B cell line. We used shotgun sequencing of transcripts to generate randomly distributed reads. Of these, 50% mapped to unique genomic locations, of which 80% corresponded to known exons. We found that 66% of the polyadenylated transcriptome mapped to known genes and 34% to nonannotated genomic regions. On the basis of known transcripts, RNA-Seq can detect 25% more genes than can microarrays. A global survey of messenger RNA splicing events identified 94,241 splice junctions (4096 of which were previously unidentified) and showed that exon skipping is the most prevalent form of alternative splicing.

Keywords

TranscriptomeBiologyPolyadenylationExonRNA splicingExon skippingGeneAlternative splicingGeneticsHuman genomeRNA-SeqComputational biologyDNA microarrayDe novo transcriptome assemblyGenomeRNAGene expression

MeSH Terms

Alternative SplicingCell LineCell LineTumorComputational BiologyDNAComplementaryDNAIntergenicExonsGene Expression ProfilingGenomeHumanHumansIntronsOligonucleotide Array Sequence AnalysisRNA Polymerase IIRNA Splice SitesRNAMessengerSequence AnalysisRNA

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Publication Info

Year
2008
Type
article
Volume
321
Issue
5891
Pages
956-960
Citations
1294
Access
Closed

Social Impact

Social media, news, blog, policy document mentions

Citation Metrics

1294
OpenAlex
45
Influential
1041
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Cite This

Marc Sultan, Marcel H. Schulz, Hugues Richard et al. (2008). A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome. Science , 321 (5891) , 956-960. https://doi.org/10.1126/science.1160342

Identifiers

DOI
10.1126/science.1160342
PMID
18599741

Data Quality

Data completeness: 81%