4.8 Article

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

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NATURE GENETICS
卷 40, 期 12, 页码 1413-1415

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NATURE PUBLISHING GROUP
DOI: 10.1038/ng.259

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  1. Canadian Institutes of Health Research
  2. Genome Canada through the Ontario Genomics Institute

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We carried out the first analysis of alternative splicing complexity in human tissues using mRNA-Seq data. New splice junctions were detected in similar to 20% of multiexon genes, many of which are tissue specific. By combining mRNA-Seq and EST-cDNA sequence data, we estimate that transcripts from similar to 95% of multiexon genes undergo alternative splicing and that there are similar to 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.

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