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 proposed research will focus 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 will include a transport mechanism based on
electrowetting actuation (EWOD).
Two alternative SNP detection platforms
will be developed based on optical and magnetic sensing respectively. The
whole system will be packaged as a single automated functional system with
a simplified GUI interface, based on specifications recommended by
potential end-users within the consortium. The systems development will
focus on delivering 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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