Applied Biosystems Announces Major Data Release Into Public Domain; Genome-Wide Resequencing Primer Sequences Now Available Through National Center for Biotechnology Information (NCBI).FOSTER CITY, Calif. & SALT LAKE CITY -- Applied Biosystems (NYSE NYSE See: New York Stock Exchange :ABI Abi (ā`bī) [short for Abijah], in the Bible, King Hezekiah's mother. (Application Binary Interface) A specification for a specific hardware platform combined with the operating system. ), an Applera Corporation business, today announced the contribution of more than 400,000 PCR PCR polymerase chain reaction. PCR abbr. polymerase chain reaction Polymerase chain reaction (PCR) primer-pair designs for nearly 16,000 human genes for detection of DNA sequence variants associated with disease and other phenotypes. The primer sequences will be made available through a new Probe Database developed by the National Center for Biotechnology Information The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health. The NCBI is located in Bethesda, Maryland and was founded in 1988. (NCBI NCBI National Center for Biotechnology Information (NIH) NCBI National Coalition Building Institute NCBI National Council for the Blind of Ireland (Dublin, Ireland) ). The announcement was made in conjunction with the American Society of Human Genetics Annual Meeting in Salt Lake City, Utah For ships of the United States Navy of the same name, see . Salt Lake City is the capital and the most populous city of the U.S. state of Utah. The name of the city is often shortened to Salt Lake, or its initials, S.L.C. , October 25 - 29, 2005. Resequencing, or directed sequencing, by capillary electrophoresis enables identification of the full spectrum of DNA DNA: see nucleic acid. DNA or deoxyribonucleic acid One of two types of nucleic acid (the other is RNA); a complex organic compound found in all living cells and many viruses. It is the chemical substance of genes. variations, including single nucleotide polymorphisms (SNPs), multiple nucleotide polymorphisms (MNPs), and insertions/deletions. "With the completion of the Human Genome Project, researchers are now interested in discovering gene variations among individuals and populations," said Richard Bennett, Department of Genetics, Children's Hospital of Boston. "Resequencing is of paramount importance for understanding complex human disease, such as muscular dystrophy; however, the process of designing sequence-specific primers can be expensive and time-consuming. With Applied Biosystems resequencing primers we have moved one step closer in discovering better diagnostic tools for muscular dystrophy." Through the Applera Genome Project, Applied Biosystems and Celera Genomics developed a genome-wide resequencing primer set generating millions of sequence trace files. The information generated was used to select primer sequences with maximum probability of producing high quality sequencing information. Applied Biosystems developed the VariantSEQr(TM) Resequencing System for detecting sequence variants in human genes using these data. "Applied Biosystems and Celera Genomics' investment in genomic data has been unprecedented in the industry. The release of our resequencing primer designs demonstrates our continued commitment to supporting the research community by providing a rich data resource," said Dennis A. Gilbert, Ph.D., Chief Scientific Officer for Applied Biosystems. "We hope this contribution to the field will help stimulate further genomic studies, standardize experiments on gold-standard technologies, such as capillary electrophoresis, and speed the development of new predictive diagnostic tests and therapeutics for complex diseases." Posters featuring the Applied Biosystems VariantSEQr(TM) Resequencing System include: --Detection of Muscular Dystrophy Genotypes via Universal Condition Direct Sequencing (UCDS UCDS University Child Development School (Seattle, WA) UCDS Unit Chemical Defense Study UCDS Uniform Clinical Data Set ) (Poster 2114/W) Wednesday, October 26; 4:30 - 6:30 p.m. Exhibit Hall Richard Bennett, Department of Genetics, Children's Hospital of Boston, will discuss how mutations in the genes causing muscular dystrophy remain undetected in patients, because of the unavailability of reliable and cost effective assays. He will highlight several strategies, including amplification of genes through one single set of PCR conditions and resequencing through automated primer design tools to seek primers for all salient portions of genes, such as DMD (1) (Digital Micromirror Device) See DLP. (2) (Digital Multi-layer Disk) See high-def DVD formats. , CAV3, TRIM32, CAPN CAPN Calpain CAPN Computer Automated Practical Navigator CAPN Customer Account Profile Number 3, FKRP FKRP Fukutin-Related Protein (gene) , FCMD FCMD Fukuyama Congenital Muscular Dystrophy , DYSF DYSF Dysferlin , SGCA SGCA Sarcoglycan, Alpha , SGCB SGCB Sarcoglycan-Beta , SGCD, SGCG, and NEB genes. --Identification of SNPs with Metabolic Impact (Poster 1352/W) Wednesday, October 26; 4:30 - 6:30 p.m. Exhibit Hall N.J. Marini, University of California The University of California has a combined student body of more than 191,000 students, over 1,340,000 living alumni, and a combined systemwide and campus endowment of just over $7.3 billion (8th largest in the United States). Berkeley, will report on a resequencing study on prototypical vitamin-dependent enzyme genes, Ornithine Aminotransferase (OAT), Thymidylate Synthase (TYMS), Methylenetetrahydrofolate Reductase (MTHFR MTHFR Methylenetetrahydrofolate Reductase (gene mutation) ), and Glycinamide Ribonucleotide ribonucleotide /ri·bo·nu·cleo·tide/ (-tid) a nucleotide in which the purine or pyrimidine base is combined with ribose. ri·bo·nu·cle·o·tide n. Transformylase (GART), in a 564 individual, ethnically diverse population. The current status of variants identified and functional assessment will be presented as well as the implications for the broader genomic set of vitamin-dependent enzymes. --Design and Validation of Resequencing Primer Sets for 16,336 Human Genes for Analyses of Sequence Variation and SNP Discovery (Poster 1248/T) Thursday, October 27; 4:30 - 6:30 p.m. Exhibit Hall Xiaoying Lin, Applied Biosystems, will discuss the development of a high-throughput, high quality computational pipeline to design PCR primer pairs for resequencing of human genes. The pipeline has generated greater-than 400,000 amplicon pairs for greater-than 16,000 human genes. Lab validation of a sub-set of these designs shows a success rate of 95 percent. --Resequencing Process for the Discovery of Variants in Human Mitochondrial DNA (Poster 2114/W) Friday, October 28; 1:30 - 3:30 p.m. Exhibit Hall Yenyoung Lei, Applied Biosystems, will report on a resequencing workflow for mitochondrial DNA with 46 VariantSEQr primer-pairs designed to cover the entire mitochondrial genome. She will describe the discovery of novel variants in 23 Coriell DNAs as compared to the Cambridge Reference sequence The Cambridge Reference Sequence (CRS) for human mitochondrial DNA was first published in 1981 as a forerunner of the human genome project. It should be noted that sometimes the abbreviation "CRS" is used to mean "coding region sequence" with regard to mitochondrial DNA. . About the NCBI Probe Database The Probe Database is a public archive of sequence-specific probes designed for a variety of experimental uses. In addition to resequencing primers from the VariantSEQr System, it also includes reagents used for genotyping in the HapMap project, probes for gene expression analysis, and RNAi reagents for silencing specific mouse and human genes. These sequences, together with ancillary information on probe validation, reagent availability, and experimental protocols will allow researchers to accelerate the pace of discovery. The NCBI Probe Database is publicly accessible through the World Wide Web at http://www.ncbi.nlm.nih.gov/genome/probe/. About Applied Biosystems' VariantSEQr(TM) Resequencing System Advances in capillary electrophoresis platforms and sequencing reagents have enabled resequencing to become the gold standard approach for mutation detection and SNP discovery. While other methods are available for the detection and screening of mutations, resequencing is the only direct, comprehensive, and reliable method. The Applied Biosystems resequencing primers include full gene coverage of each gene's RefSeq NM transcripts mapped to the NCBI Human Build 35 reference assembly, with primers for all exons (coding and non-coding), intron/exon splice junctions, and 5' regulatory regions. Additionally, each gene is annotated to show regions where there is less than 100 percent coverage, and each primer-pair's performance is given a predicted confidence value. 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 RNA: see nucleic acid. RNA in full ribonucleic acid One of the two main types of nucleic acid (the other being DNA), which functions in cellular protein synthesis in all living cells and replaces DNA as the carrier of genetic ), 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 nearly $1.8 billion during fiscal 2005. The Celera Genomics Group (NYSE:CRA See Community Reinvestment Act. ) is engaged principally in the discovery and development of targeted therapeutics for cancer, autoimmune and inflammatory diseases. Celera Genomics is leveraging its proteomic, bioinformatic, and genomic capabilities to identify and validate drug targets, and to discover and develop small molecule therapeutics. It is also seeking to advance therapeutic antibody and selected small molecule drug programs in collaboration with global technology and market leaders. Celera Diagnostics, a 50/50 joint venture between Applied Biosystems and Celera Genomics, is focused on discovery, development, and commercialization of diagnostic products. 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/. All information in this press release is as of the date of the release, and Applera does not undertake any duty to update this information, including any forward-looking statements, unless required by law. For Research Use Only. Not for use in diagnostic procedures. VariantSEQr(TM) Resequencing System: This product is optimized for use in the Polymerase Chain Reaction polymerase chain reaction (pŏl`ĭmərās') (PCR), laboratory process in which a particular DNA segment from a mixture of DNA chains is rapidly replicated, producing a large, readily analyzed sample of a piece of DNA; the process is (PCR) process covered by patents outside the U.S. owned by F. Hoffmann-La Roche Ltd. No license under these patents to use the PCR process is conveyed expressly or by implication to the purchaser by the purchase of this product. (C)Copyright 2005. Applera Corporation. All rights reserved. Applied Biosystems and Celera are registered trademarks and Applera, Celera Genomics, and Celera Diagnostics are trademarks of Applera Corporation or its subsidiaries in the U.S. and/or certain other countries. TaqMan is a registered trademark of Roche Molecular Systems, Inc. |
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