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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