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A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome

by: Marc Sultan, Marcel H Schulz, Hugues Richard, Alon Magen, Andreas Klingenhoff, Matthias Scherf, Martin Seifert, Tatjana Borodina, Aleksey Soldatov, Dmitri Parkhomchuk, Dominic Schmidt, Sean O'Keeffe, Stefan Haas, Martin Vingron, Hans Lehrach, Marie-Laure Yaspo
Science (3 July 2008), 1160342.


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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. Shotgun sequencing of transcripts was used to generate randomly distributed reads. Of these, 50% mapped to unique genomic location, of which 80% corresponded to known exons. We found that 66% of the polyadenylated transcriptome mapped to known genes and 34% to non-annotated genomic regions. Based on known transcripts, RNAseq can detect 25% more genes than microarrays. A global survey of mRNA splicing events identified 94,241 splice junctions, of which 4,096 are novel, and showed that exon skipping is the most prevalent form of alternative splicing. 10.1126/science.1160342


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