Optimized Workflow for Single Cell Copy Number Profiling Using High Resolution Oligo CGH Arrays
Poster Nov 10, 2016
Scott Basehore, Paula Costa, Natalia Novoradovskaya, Anniek De Witte, Stephanie Fulmer-Smentek
The ability to characterize individual genomes in single cells is very important in pre-implantation genetics research. Traditional FISH and PCR based techniques, and more recently BAC arrays, have been used to provide insights into a single cell’s genome, with low resolution due to the limited number of loci that can be analyzed simultaneously. Here we describe GenetiSure Pre-Screen, a same day, cost-effective, analysis workflow (Figure 1) that combines whole genome amplification (WGA) with copy number (CN) profiling using high-resolution oligo CGH microarrays.
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Genome-wide association studies (GWAS) have identified more than 100 genetic loci associated with type 2 diabetes. The majority of these are located in the intergenic or intragenic regions suggesting that the implicated variants may alter chromatin conformation. This, in turn, is likely to influence the expression of nearby or more remotely located genes to alter beta cell function. At present, however, detailed molecular and functional analyses are still lacking for most of these variants. We recently analysed one of these loci and mapped five causal variants in an islet-specific enhancer cluster within the STARD10 gene locus. Here, we aimed to understand how these causal variants influence b-cell function by alteration of the chromatin structure of enhancer clusterREAD MORE