Illumina Announces Breakthrough Human Genome Sequencing Studies Published in Nature
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Illumina has announced that the November 6, 2008 issue of Nature published sequencing results of the first Yoruban human genome. The study 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 - featured in the same November 6 issue of Nature 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.
Findings of these three papers will be presented in greater detail by Jun Wang, Ph.D. of BGI, Rick Wilson, Ph.D. of Washington University, and Scott Kahn, Ph.D. of Illumina during a press briefing at the 58th annual meeting of the American Society of Human Genetics. Sponsored by Illumina in collaboration with Nature, the press briefing will take place on Tuesday, November 11, 2008 at 6:00pm EST.
"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 centers to perform a range of applications, including whole-genome, targeted and de novo sequencing, analysis of bisulfite converted DNA, transcriptome profiling and characterization of protein-nucleic acid interactions to publish the studies at an unprecedented rate.
