Illumina announces breakthrough human genome sequencing studies

12 November 2008

Illumina (NASDAQ: ILMN) has announced the sequencing results of the first Yoruban human genome. The study, published in the 6 November 2008 issue of Nature was completed by Illumina scientists and collaborators at the Wellcome Trust Sanger Institute and generated greater than 30x average coverage of the genome.

Four million single-nucleotide polymorphisms (SNPs), including one million novel SNPs, and 400,000 structural variants were identified. The Yoruban study and two other papers — by researchers at Beijing Genomics Institute (BGI) and Washington University — also featured in the same issue of Nature and all used the Illumina Genome Analyzer to complete the sequencing studies.

This marks the first time that three human genome studies — including the first Asian individual, the first cancer patient, and the first African male — have been simultaneously published in a single journal.

“The Illumina publication of Accurate whole human genome sequencing using reversible terminator chemistry is a testament to the work of many individuals, who over the past 10 years contributed to the development of the Genome Analyzer. Without their tireless effort and dedication, these achievements would not have been possible,” said David Bentley, Vice-President and Chief Scientist of DNA Sequencing at Illumina. “The publications and perspectives presented in this leading scientific journal confirm that it is now possible to economically and efficiently sequence human genomes to discover and profile human genetic variation.”

Illumina’s sequencing technology is founded on large-scale parallel sequencing of millions of nucleic acid fragments using proprietary reversible terminator-based sequencing chemistry.

The Genome Analyzer has been broadly adopted by both single-investigator laboratories and genome centres to perform an extensive range of applications, including whole-genome, targeted and de novo sequencing, analysis of bisulphite converted DNA, transcriptome profiling and characterization of protein-nucleic acid interactions to publish groundbreaking studies at an unprecedented rate.

Since its commercial release in early 2007, more than 120 original research studies have been published on the Genome Analyzer in peer-reviewed journals.

“The publication of three independent genomes demonstrates the utility of the Genome Analyzer in enabling groundbreaking research at a scale that was previously not possible. These studies, along with multiple ongoing efforts, including the 1,000 Genomes Project, will undoubtedly lead to new insights that will enhance our understanding of human health,” said Christian Henry, Senior Vice President, Chief Financial Officer, and Acting General Manger of Illumina’s Sequencing Business.

“With continued improvements to the output, accuracy, and read length delivered by the Genome Analyzer, we expect human genome sequencing to become even more economical and ultimately routine.”

Internally Illumina has demonstrated that the Genome Analyzer is capable of delivering paired reads in excess of 100bp each and over 20Gb of data per run. As these capabilities are broadly released, the Illumina Genome Analyzer will continue to set the standard for accurate economical sequencing that will contribute to studies aimed at understanding the genetic basis of disease.

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