iPLEX Gold SNP Genotyping Publications and Literature

SNP Genotyping
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DNA Methylation
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Rare Mutation Profiling
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Featured Publication

Common Variants in the NLRP3 region Contribute to Crohn’s Disease Susceptibility

Alexandra-Chloe Villani and colleagues from the McGill University and Génome Québec Innovation Centre and the Research Institute of the McGill University Health Centre (RI MUHC), along with collaborators at other Canadian and Belgian institutions used a candidate gene approach to identify the NLRP3 region as a novel risk factor contributing to Crohn's disease (CD) susceptibility, a common inflammatory disorder.  Instead of performing GWAS with limited coverage in their area of interest, Sequenom genotyping was the technology of choice for validating a small number of SNPs within a highly predicted regulatory region downstream of NLRP3 across a large cohort. These SNPs also are significantly correlated with NLRP3 and cytokine gene expression, strengthening the hypothesis that these SNPs may be one of several causal variants of CD and other inflammatory disorders. Check out all the details at: Villiani, A.C., et al Nat Genetics 41: 71-76.

iPLEX Gold SNP Genotyping Literature


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