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Studying Gene Structure, Expression and Regulation Using the Illumina HiSeq 2000 System

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The Illumina HiSeq2000 is a new high-throughput DNA sequencing platform that produces more than 1 billion reads and over 200 Gb of high quality data per run. We have used the throughput of the HiSeq2000 to create a Gene Expression Body Map that includes very deep coverage of transcripts from 16 individual human tissues, a complete map of all coding and non-coding RNAs in the human transcriptome, a RNA -Seq profiling study of 192 samples, and a whole genome comparison of DNA methylation in a cancer/normal pair. Each of these very large sequencing projects can now be done in a single instrument run using the HiSeq2000. In this presentation we will review the data from these four projects, look in detail at the system performance for each application, and discuss how this new system enables new genome-wide studies in functional genomics.

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