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

Q Pan, O Shai, LJ Lee, BJ Frey, BJ Blencowe - Nature genetics, 2008 - nature.com
Q Pan, O Shai, LJ Lee, BJ Frey, BJ Blencowe
Nature genetics, 2008nature.com
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 …
Abstract
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.
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