Oxford Gene Technology (OGT), provider of innovative genetics research and biomarker solutions to advance molecular medicine, has produced a new, free-to-download application note on combined array comparative genomic hybridisation (aCGH) and single nucleotide polymorphism (SNP) arrays.

The application note, titled ‘Detecting copy number variants and runs of homozygosity on a single array — challenges and applications’ aims to support researchers in navigating this combined approach for the simultaneous detection of copy number variations (CNVs) and runs of homozygosity (ROH).

aCGH has established itself as the “gold-standard” platform for array-based CNV detection. Recent advances have enabled the combination of aCGH probes for CNV detection with probes able to detect SNPs. Ideal for clinical genetics researchers, the application note highlights the importance and benefits of these combined probe arrays in the detection of various genetic conditions.  For example, OGT’s CytoSure aCGH +SNP arrays allow any reference DNA to be used and no restriction digest of the sample is required. This means that labelling and hybridisation steps can be competed in a single day — which is significantly quicker than typical SNP platforms — while providing information on changes in copy number and regions of homozygosity, and integrating into existing workflows.

The OGT arrays have been research-validated to provide informative, biologically relevant SNP data for various genetic aberrations such as uniparental disomy (UDP), mosaic aneuploidy and ROH, without compromising on high-quality CNV data. CytoSure aCGH +SNP arrays are available for constitutional, cancer and molecular genetics research. Each array purchase also comes with complimentary access to OGT’s powerful, user-friendly CytoSure Interpret Software, a CNV and SNP data analysis package which contains innovative features to minimise user intervention and maximise consistency and speed of data interpretation.

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