Development of a complete integrated SNP analysis system (SNiP2CHIP) - Publishable Executive Summary
Project ID: 16833Funded under: FP6-NMP
The requirement to screen for known SNPs (single nucleotide polymorphisms) has become one of the key challenges to be addressed to enable the exploitation of the human genome sequence, where approximately 3 million SNPs are responsible for all of the variation within the human population. Several methods and technologies are currently available for detection of SNPs, but no single platform exists which can deliver 100% accuracy, in a low cost, versatile, and easy-to-use integrated system. The SNIP2CHIP project is focused on the development of integrated SNP detection platforms to include modules for DNA extraction and purification from biological samples, DNA amplification, DNA characterisation (including SNP detection), signal transduction, interpretation and data analysis. Integration of the modules on a single platform is being implemented using a transport mechanism based on electrowetting actuation (EWOD). Two alternative SNP detection platforms are being developed based on optical and magnetic sensing respectively. The whole system is being integrated as a single automated functional system with a simplified GUI interface, based on end-user specifications. The systems development will focus on ultimate delivery of a product customised for low to medium throughput, low cost, point-of-care applications, with emphasis on providing very rapid and accurate results. Within the project, the systems will be benchmarked for screening of SNPs in the CFTR gene that are associated with cystic fibrosis. CF patient samples will be used to verify the accuracy and reproducibility of the system in a clinical diagnostics laboratory.
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Record Number: 9514 / Last updated on: 2008-10-30