Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

• Published in: Nature genetics Vol. 40; no. 12; pp. 1413 - 1415
• Main Authors: Blencowe, Benjamin J, Pan, Qun, Shai, Ofer, Lee, Leo J, Frey, Brendan J
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01-12-2008; Nature Publishing Group
• Subjects: Agriculture; Alternative Splicing; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Brain; brief-communication; Cancer Research; DNA microarrays; DNA sequencing; Estimates; Fundamental and applied biological sciences. Psychology; Gene expression; Gene Expression Profiling; Gene Function; Genetic engineering; Genetics of eukaryotes. Biological and molecular evolution; Human Genetics; Humans; Medical research; Messenger RNA; Methods; Nucleotide sequencing; Physiological aspects; RNA Splice Sites; RNA, Messenger; Sequence Analysis, RNA - methods; Studies; Tissues; Canada; Human; Alternative splicing; Sequencing; Transcriptome
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.259

We carried out the first analysis of alternative splicing complexity in human tissues using mRNA-Seq data. New splice junctions were detected in ∼20% of multiexon genes, many of which are tissue specific. By combining mRNA-Seq and EST-cDNA sequence data, we estimate that transcripts from ∼95% of multiexon genes undergo alternative splicing and that there are ∼100,000 intermediate- to high-abundance alternative splicing events in major human tissues. From a comparison with quantitative alternative splicing microarray profiling data, we also show that mRNA-Seq data provide reliable measurements for exon inclusion levels.