NCGR Breaks The 20 Billion DNA Sequence Barrier With Illumina Genome Analyzer

Main Category: Genetics
Also Included In: Biology / Biochemistry;  Medical Devices / Diagnostics
Article Date: 26 Jan 2009 - 2:00 PDT

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The National Center for Genome Resources (NCGR) announced that it has broken the 20 billion DNA sequence barrier for the first time with an Illumina Genome Analyzer. Using a single Illumina flowcell, NCGR scientists generated more than 20 billion bases (or letters) of high quality human DNA sequence - seven-times the length of a human genome.

This milestone brings significantly closer the ability to decode individual genomes cost-effectively, which is widely heralded to transform understanding of human disease, its diagnosis and prevention.

The individual whose genome was sequenced suffers from multiple sclerosis. Funded by Small Ventures USA, the Brass Family Foundation and the Nancy Davis Foundation, the project was undertaken in collaboration with scientists at the University of California, San Francisco, Department of Neurology and Illumina Inc., and seeks to identify changes in the DNA code that increase risk of multiple sclerosis.

"This milestone is the result of close collaboration between scientists at NCGR and Illumina," said Ryan Kim, Deputy Director of the NCGR Genome Center. "DNA sequence throughput has been steadily increasing over the last several months and we are delighted with the combination of accuracy and throughput that we have achieved."

Technical details: 20.5 billion bases of DNA sequence passed quality metrics with a paired-end library on a Illumina Genome Analyzer II instrument and single flowcell using improved sequencing chemistry. Human DNA sequence was generated in seven of eight flowcell channels, creating approximately 13 million sequences per channel, each of which was 212 bases in length (pairs of 106 base sequences). The average quality score of the sequence was greater than 25 and average error rate was 0.91%. In addition, 18.8 billion bases of DNA sequence passed quality metrics with a long-insert (4000 bases) paired-end library from a single flowcell on a second individual, also comprising pairs of 106 base sequences. The latter is part of the first Korean genome sequence and was funded and performed in collaboration with Macrogen Inc. and the ILCHUN Genomic Medicine Institute at Seoul National University.

"The long sequences, high throughput and low error rates that we are achieving with Illumina's sequencing platform are enabling entirely new types of experiments to be performed," said, Gregory May, Vice President and Genome Center Director. "These include metagenomics (sequencing communities of organisms) and de novo (initial) sequencing of the largest genomes. These advances are having huge impact on research to improve the quality and yield of food crops."

"We're excited that scientists at NCGR have validated the scalability of the Genome Analyzer and are generating this level of data. As long time collaborators, we believe this achievement is a direct result of their continued work to cost-effectively study human disease," said Joel McComb, Senior Vice President and General Manager of Illumina's Life Science Business Unit.

The NCGR Genome Center is a collaboration with the New Mexico Institute of Mining and Technology (New Mexico Tech). It was made possible through the concerted efforts of New Mexico Governor Bill Richardson, Senators Jeff Bingaman and Tom Udall and the New Mexico Legislature, specifically Senator Carlos Cisneros. The NCGR Genome Center currently houses six Illumina Genome Analyzers II and provides large scale sequencing and analysis services to collaborators worldwide. Other sequencing projects at NCGR include the schizophrenia genome project and sequencing the genomes of cotton, the major pathogen of chile, and numerous legume crop sequencing projects.

NCGR's mission is to improve health, nutrition and the environment by genome sequencing and analysis. NCGR is the only organization in North America to receive certification for Illumina-based sequencing under the CSProTM Program.

NCGR