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Applied Biosystems Genomic Analysis Platform Fuels New Era of Life-Sciences Research

Business Wire,  May 6, 2008  

Scientists From the Broad Institute and Columbia University Medical Center to Present Data at Biology of Genomes Meeting

Upgrades to SOLiD[TM] System Software and Chemistry Double Throughput, Simplify Workflows, and Decrease Run Times

FOSTER CITY, Calif. -- When Applied Biosystems (NYSE:ABI), an Applera Corporation business, introduced its ultra-high-throughput genomic analysis system less than a year ago, the company entered a new era of life-science research, enabling scientists to adopt new approaches for studying the genetic basis of health and disease. Researchers at the Broad Institute of MIT and Harvard, as well as Columbia University Medical Center (CUMC), have adopted innovative approaches for their research related to large-scale discovery of genetic variation and cancer research, respectively. This week, scientists from these institutions will present preliminary findings from their research using the SOLiD[TM] System at the Cold Spring Harbor Laboratory's Biology of Genomes meeting in New York.

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As part of its ongoing commitment to commercializing best-in-class genomic analysis platforms, Applied Biosystems today announced significant new enhancements to the SOLiD System platform, the company's new technology for DNA sequencing and genomic analysis research. These include upgrades to software and chemistry that double throughput, simplify workflows and decrease system run times. These enhancements are expected to support future innovative approaches to some of the most important areas of research for the scientific community.

"The SOLiD System has already had a tremendous impact in driving significant life-science research, including important projects related to medically relevant genetic variation and cancer research," said Shaf Yousaf, president for Applied Biosystems' molecular and cell biology genomic analysis division. "These new performance enhancements enable the SOLiD System to continue to establish new standards for ultra-high-throughput genomic analysis, helping Applied Biosystems to maintain its established leadership in DNA sequencing and other high-throughput genomic analysis applications."

Large-Scale Discovery of Genetic Variation at the Broad Institute

Researchers at the Broad Institute are using the SOLiD System for large-scale discovery of genetic variation in human genome samples. This research is expected to be included as part of the Broad Institute's contribution to the 1000 Genomes Project, a worldwide research effort sponsored by the National Human Genome Research Institute (NHGRI), the Wellcome Trust and the Beijing Genomics Institute. This project will involve the sequencing of 1,000 genomes from people from around the world to create the most detailed and medically useful picture to date of human genetic variation. The data generated as part of the 1000 Genomes Project are expected to reveal clues about how variant DNA sequences contribute to conditions such as cancer, diabetes and heart disease.

In analysis of DNA single base changes - also known as SNPs (single nucleotide polymorphisms) - scientists at the Broad Institute used two SOLiD Systems to generate more than 50 billion bases of DNA sequence over the past six weeks. At the Cold Spring Harbor Laboratory meeting, Dr. Chad Nusbaum, co-director of the Broad Institute's genome biology program, will present highly accurate polymorphism discovery data from a human genome sample that belongs to a trio, which is a family of a father, mother, and offspring. Among other findings, Dr. Nusbaum's team will report that SNPs discovered as a result of using the SOLiD System were matched with high accuracy to a database of known SNPs.

Genomic analysis platforms capable of ultra-high throughput are quickly becoming established as the standard for the study of complex genomes because as the technologies mature, the cost of analysis continues to decrease. The Broad Institute completed sequencing experiments with yields of up to 13.4 billion bases per run; more than two times the number of bases that comprise an entire diploid human genome.

Methylation Profiling Studies at Columbia University Medical Center Reveal Clues about Breast Cancer

The SOLiD System is helping researchers at Columbia University Medical Center (CUMC) to develop new approaches to methylation profiling studies of cancer. In these kinds of studies, researchers evaluate patterns of methylation, which is a chemical modification to DNA, at CpG sites in the genome. Dense regions of these sites are often located near gene promoters and within repetitive regions of the genome, where cytosine (C) and guanine (G) nucleotides are present in tandem at greater frequency than in other parts of the genome. Researchers study patterns of methylation in these CpG-rich regions as to better understand how methylation contributes to cancer.

These scientists, including Dr. John Edwards, associate research scientist at CUMC's genome center, and Dr. Timothy Bestor, a professor in CUMC's department of genetics and development, have been using the SOLiD System to help carry out a novel approach for studying whole-genome methylation profiles of a panel of breast cancer tumors and normal controls. This approach incorporates the mate-pair analysis capabilities of the SOLiD System to map the methylation state of all regions of the genome, including promoters, genic regions, and repetitive elements. Mate-pair analysis - the ability of a genetic analysis system to analyze pairs of sequences separated by a known distance between them - allows researchers to precisely determine where those sequences are located in the genome.