New Applied Biosystems Software Accelerates the Identification of Genetic Variants Used in Biomedical Research

FOSTER CITY, Calif.–(BUSINESS WIRE)–Applied Biosystems (NYSE:ABI), an Applera Corporation business, today announced a new software application designed to accelerate the analysis of genetic variation data. The new Variant Reporter Software reduces manual review time of these data by automating the detection of genetic variants and streamlining the data analysis process. Applied Biosystems expects that the software can reduce by up to half the time currently required to evaluate genetic variation data generated during medical sequencing projects.1

Medical sequencing also known as resequencing is widely used to identify genetic variations in sample populations. This analysis technique is central to understanding genetic causes of disease and individual response to drugs. Automated DNA sequencing technologies have made it possible for researchers to perform detection and screening studies of genetic variants in large sample populations. These production-scale projects are generating substantial data sets that require robust bioinformatics tools that can facilitate the rapid analysis and management of these data.

Up to 70% of the medical sequencing process from DNA extraction to data analysis can be spent in data analysis.2 To streamline the analysis process Variant Reporter Software uses proprietary algorithms to identify genetic variations based on standardized or user-defined parameters. Results are then presented for validation in a visual format that allows researchers to simultaneously compare multiple quality control metrics. These features are expected to enable researchers to more efficiently study complex diseases across multiple genes and process data sets larger than current software applications are capable of managing.

Dr. Nicholas Marini, Ph.D., a research scientist at the University of California at Berkeley, is resequencing the coding regions in 19 folate metabolic genes from a population of 500 newborns to explain why women who use vitamins containing folic acid in early pregnancy are at a lower risk for delivering infants with neural tube defects. Neural tube defects are birth defects of the brain and spinal cord that can cause conditions such as spina bifida.

The ability to rapidly evaluate resequencing data could significantly advance research focused on the molecular basis of disease or an individuals potential drug response, said Dr. Marini. The Variant Reporter software addresses a major log jam that currently exists in this process by providing a better way to rapidly evaluate variation data and identify targets of interest. This could save us literally hundreds of hours in time spent evaluating these large data sets.

Variant Reporter software identifies genetic variations by using proprietary algorithms that have been tested for precision against large reference data sets. The software uses these algorithms to accelerate the discovery of genetic variants, determine the genotypes and then calculate project quality statistics. The results are then presented in a single window which allows users to rapidly compare them against multiple quality control metrics including targeted electropherograms. Results can be captured for further study in reports which provide information such as high-level project statistics, comprehensive details on project quality or individual specimen genotypes.

Medical sequencing projects are contributing to a significant increase in the number of samples run on Sanger-based sequencing systems worldwide, said Kim Caple, vice president and general manager for Applied Biosystems genetic analysis business. The Variant Reporter software enables our customers engaged in medical sequencing projects to better understand the data generated by our genetic analysis instruments systems so they can be more successful in their work.

Applied Biosystems is a global leader in the development and commercialization of instrument-based systems, consumables, software, and services for the life-science market. The company commercialized technologies that helped scientists to sequence the human genome. Applied Biosystems continues its leadership in DNA analysis by developing applications for its capillary electrophoresis genetic analysis systems as well as commercializing new innovative technology such as the SOLiD System for ultra high-throughput sequencing-based applications. These technologies help scientists along the research continuum from discovery to validation as well as in commercial and applied applications based on genomic information. Further information about the Variant Reporter software and a trial version download are available at www.appliedbiosystems.com.

About Applera Corporation and Applied Biosystems

Applera Corporation consists of two operating groups. The Applied Biosystems Group serves the life science industry and research community by developing and marketing instrument-based systems, consumables, software, and services. Customers use these tools to analyze nucleic acids (DNA and RNA), small molecules, and proteins to make scientific discoveries and develop new pharmaceuticals. Applied Biosystems products also serve the needs of some markets outside of life science research, which we refer to as applied markets, such as the fields of: human identity testing (forensic and paternity testing); biosecurity, which refers to products needed in response to the threat of biological terrorism and other malicious, accidental, and natural biological dangers; and quality and safety testing, for example in food and the environment. Applied Biosystems is headquartered in Foster City, CA, and reported sales of $1.9 billion during fiscal 2006. The Celera Group is primarily a molecular diagnostics business that is using proprietary genomics and proteomics discovery platforms to identify and validate novel diagnostic markers, and is developing diagnostic products based on these markers as well as other known markers. Celera maintains a strategic alliance with Abbott for the development and commercialization of molecular, or nucleic acid-based, diagnostic products, and it is also developing new diagnostic products outside of this alliance. Through its genomics and proteomics research efforts, Celera is also discovering and validating therapeutic targets, and it is seeking strategic partnerships to develop therapeutic products based on these discovered targets. Information about Applera Corporation, including reports and other information filed by the company with the Securities and Exchange Commission, is available at http://www.applera.com, or by telephoning 800.762.6923. Information about Applied Biosystems is available at http://www.appliedbiosystems.com.

Footnote

1. The reduction of time is based on internal Applied Biosystems laboratory test results.

2. Time estimates are based on product development feedback from Applied Biosystems customers.

For Research Use Only. Not for use in diagnostic procedures. Applera, Applied Biosystems, and AB (Design) are registered trademarks and SOLiD and Variant Reporter are trademarks of Applera Corporation or its subsidiaries in the U.S. and/or other countries.

Copyright© 2007. Applera Corporation. All rights reserved.