Public Release: 

SEQUENOM announces publication of results from large-scale SNP study with the National Cancer Institute

Noonan/Russo Communications

San Diego, Jan. 16, 2001 - SEQUENOM™, Inc. (Nasdaq: SQNM) today announced the publication of the results from its large-scale SNP assay development and validation study undertaken in collaboration with the National Cancer Institute (NCI). The study, published in today's edition of the Proceedings of the National Academy of Sciences (PNAS), represents the largest SNP validation study completed to date and was accomplished in a period of less than four weeks. The results from the study were obtained using SEQUENOM's automated assay development process and proprietary MassARRAY™ system, which was used to analyze SNPs in pooled DNA samples. Copies of the paper are now available from the PNAS news office, 202-334-2138 or

The paper, entitled "High throughput development and characterization of a genome-wide collection of gene-based SNP markers by chip-based MALDI-TOF mass spectrometry," describes work done in collaboration with the Laboratory of Population Genetics at the NCI. The study involved the development of more than 9,000 assays, which were used to confirm gene-based single nucleotide polymorphisms (SNPs) in a reference population of 94 individuals. The study succeeded in identifying 3,148 SNPs that were previously unknown.

"This work has generated the largest collection of validated gene-based SNPs described to date," added Andi Braun, M.D., Ph.D., SEQUENOM's Chief Medical Officer and head of the Company's Genomics business unit. "The validation of 3,646 SNPs, 86 percent of which are novel, provides a collection of assays of immediate utility to the human genetics community in the rush to improve understanding of the genetic basis of disease. SEQUENOM continues to increase its portfolio of assays, which now covers the majority of gene-based SNPs in the public domain, and has access to many proprietary SNPs through our collaborations."

"The success of the study with the NCI validated two proprietary advancements in SNP analysis using MassARRAY - automated assay development and the ability to analyze many SNPs in thousands of individuals in a single reaction by pooling DNA samples. These advancements have been a catalyst in attracting many of our high-caliber customers and collaborators," said Toni Schuh, Ph.D., SEQUENOM's President and Chief Executive Officer. "The words cost-effective and large-scale are often misrepresented in our industry. A system can be high throughput, but without the ability to support rapid and accurate assay development and allele frequency determination over thousands of individuals, the system itself is not effective for large-scale analyses, nor is it cost-effective. We listened to the needs of our customers and, as a result, we now have a SNP analysis strategy that is meeting the large-scale needs of our customers." As previously announced, SEQUENOM is now working with the NCI to analyze an additional 10,000 SNPs and has formed collaborations with several other companies, including Incyte Genomics, the University of Texas Southwestern and Gemini Genomics, to complete similar and still larger studies. SEQUENOM also licenses the automated SNP assay development, validated assays, and the DNA sample pooling capability to MassARRAY customers.


About SEQUENOM, Inc.
SEQUENOM is a pioneer in the genomic era of large-scale genetic variation analysis. The Company provides technologies and information to identify the medical utility of genes and genetic variations, or SNPs, for developing diagnostic and therapeutic applications. SEQUENOM's SNP analysis products include the MassARRAY system, an automated SNP assay development process, a portfolio of over 400,000 SNP assays and a proprietary DNA bank. The unique data quality of the MassARRAY system enables rapid and high precision SNP allele frequency determination by analyzing hundreds of DNA samples simultaneously. The MassARRAY system is also capable of performing full genome screens, the analysis of a disease association of many SNPs across virtually all genes in the human genome and in many individuals. SEQUENOM is headquartered in San Diego, California with offices in Hamburg, Germany and Boston, Massachusetts.

All statements in this press release that are not historical are forward-looking statements within the meaning of the Securities Exchange Act of 1934, as amended. Such forward-looking statements are subject to factors that could cause actual results to differ materially for SEQUENOM from those projected. Those factors include risks and uncertainties relating to technological approaches, product development, manufacturing, market acceptance, cost and pricing of SEQUENOM products, dependence on customers, successful performance under collaborative agreements, competition, the intellectual property of others, patent protection and other risk factors discussed from time to time in SEQUENOM's reports and filings with the Securities and Exchange Commission, including SEQUENOM's Annual Report on Form 10-K for the year ended December 31, 1999 and most recent Quarterly Report on Form 10-Q. SEQUENOM expressly disclaims any obligation or undertaking to release publicly any updates or revisions to any forward-looking statements contained herein to reflect any change in SEQUENOM's expectations with regard thereto or any change in events, conditions, or circumstances on which any such statements are based.

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