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

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 todays 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 SEQUENOMs 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 pnasnews@nas.edu.

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., SEQUENOMs Chief Medical Officer and head of the Companys 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 advancemen

Contact: Tom Baker
415-677-4455 X 370
Noonan/Russo Communications

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