Sequenom Inc announced the launch of a high-performance SNP discovery application for the Company's MassARRAY platform. Sequenom's SNP Discovery application enables users to identify previously unknown SNPs, the most common form of genetic variation, with greater accuracy and speed than competing technologies. SNP Discovery is the first of several potential commercial applications for Sequenom's recently developed Re-Sequencing technology, including DNA Methylation Analysis, Bacterial and Viral Typing, Mutation Analysis and Species Identification.
"The re-sequencing market represents another sizable opportunity for Sequenom, with the market size for SNP discovery alone estimated at more than $100 million and growing," said Toni Schuh, Sequenom's President and Chief Executive Officer. "We believe that SNP Discovery is another example of Sequenom's high-performance MassARRAY platform redefining the standards for data quality with each additional application. Together with the recent introduction of our Quantitative Gene Analysis technology, our MassARRAY platform can now be used for virtually any type of high-performance DNA analysis."
Re-sequencing is a cost-effective method for rapidly comparing target sequences with reference sequences to identify differences. This method can be used, for example, to collect the vast amounts of sequence data that are needed to understand the variations associated with inherited susceptibility to disease. Sequenom's Re-Sequencing technology has demonstrated a capacity to scan up to 3 million bases of DNA sequence per MassARRAY platform per day with unparalleled accuracy. SNP Discovery, the first application of this technology, is supported by a standard MassARRAY platform and a proprietary software package.
"Using the precision, accuracy and resolution of MALDI-TOF mass spectrometry, our SNP Discovery application is able to detect and locate previously unknown SNPs efficiently and with high sensitivity," said Charles R. Cantor, Sequenom's Chief Scientific Officer. "Initial studies using this application found approximately 30 per cent more SNPs than were available in all public databases for even the most heavily researched genes. Our system has significantly higher throughput than the most advanced competing systems. At up to 3 megabases of SNP discovery throughput per day using comparable read lengths, a single MassARRAY system has the capacity of about four times that of high-end capillary electrophoresis systems. In addition, this technology enables a number of additional high performance applications that we hope to launch in the coming months."
Re-Sequencing uses base-specific cleavage of a target sequence and compares the resulting mass signal pattern to an in silico generated mass signal pattern derived from a reference sequence. Changes in the mass pattern are computationally linked to identification of single base substitutions (or SNPs), insertions and deletions. This approach represents a paradigm shift for the re-sequencing of DNA and is a strategic tool for the analysis of genetic variation. With reference sequences now available for the human genome and many other species, re-sequencing is an ideal method for discovering genetic variation, validating sequences and performing diagnostics. Sequenom's Re-Sequencing technology was developed in collaboration with Methexis Genomics N.V. in Ghent, Belgium.