Genomic Analysis Platform Offers Insights into Health, Disease

An ultra-high throughput genomic analysis system using new technology for DNA sequencing and genomic analysis has enabled scientists to adopt new approaches for studying the genetic basis of health and disease.

The new platform, the SOLiD system is an end-to-end genomic analysis solution utilizing a proprietary technology called stepwise ligation, which generates high quality data for applications including whole genome sequencing, chromatin immunoprecipitation (ChIP), microbial sequencing, digital karyotyping, medical sequencing, genotyping, gene expression, and small RNA discovery.

Applied Biosystems (Warrington, UK) has developed significant new enhancements to the SOLiD system platform, including upgrades to software and chemistry that double throughput, simplify workflows, and decrease system run times.

With the new upgrades, the SOLiD system can consistently generate more than six billion bases of sequence data per run, maintaining the system as the highest throughput genomic analysis system available today. It can also generate up to 240 million sequence tags per run, which is expected to reduce the cost of conducting sequencing-based gene expression applications further.

Scientists at the Broad Institute of the Massachusetts Institute of Technology (MIT) and Harvard (Cambridge, MA, USA) are using two SOLiD systems for large-scale discovery of genetic variation in human genome samples, as part of the Broad Institute's contribution to the 1000 Genomes Project, a worldwide effort to create the most detailed and medically useful picture of human genetic variation to date. The scientists generated more than 50 billion bases of DNA sequence over just six weeks.

At Columbia University Medical Center (CUMC; New York, NY, USA), scientists have been using the SOLiD system for a novel approach to study whole-genome methylation profiles in a panel of breast cancer tumors, benefiting from the mate-pair analysis capabilities of the system to map the methylation state of all regions of the genome.

The institutes presented their preliminary findings at the Cold Spring Harbor Laboratory's Biology of Genomes meeting in New York (USA) from May 6-10, 2008.


Related Links:
Applied Biosystems
Broad Institute of MIT and Harvard
Columbia University Medical Center