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Illumina SNP chip


High throughput genotyping

In collaboration with Dr. Sean Ennis at University College Dublin as part of the Autism Genome Project, the group currently operates the Illumina BeadArray System, a whole genome genotyping platform that supports integrated single nucleotide polymorphism (SNP) and copy number variation (CNV) analysis. Using the Human1M-duo Infinium HD Beadchip, samples can be assayed genome-wide for over one million DNA markers.



Low throughput genotyping

There are a range of low throughput genotyping techniques available in our laboratory. These techniques can be applied to different types of genetic variants, e.g. SNPs, insertion/deletion polymorphisms (indels), microsatellite markers and variable number tandem repeats (VNTRs).

SNPs can be assayed using either the Taqman® genotyping method (see figure 1) on a 7900HT Real-Time PCR System (Applied Biosystems) or the SNaPshot® genotyping method on a 3130xl Genetic Analyzer (Applied Biosystems). We can increase the throughput of both methods by using robotics and operating in a 384-well format. Indels, microsatellite markers and VNTRs can be genotyped by size separation of fluorescently labelled PCR product on the 3130xl DNA Analyzer.
Taqman assay 




Last updated 21 September 2016 by School Web Administrator.