A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome

M Sultan, MH Schulz, H Richard, A Magen… - Science, 2008 - science.org
M Sultan, MH Schulz, H Richard, A Magen, A Klingenhoff, M Scherf, M Seifert, T Borodina…
Science, 2008science.org
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 …
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.
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