A single workflow for targeted analysis of CNVs and SNPs
Learn how NuGEN used Horizon's Reference Standards to validate detection of single nucleotide polymorphisms and copy number variation by NGS
Much of the effort in targeted resequencing today is focused on studying cancer and inherited disease. The aberrations most important in testing, diagnosis, and treatment include translocation events, (including gene fusions), copy number alterations, and single nucleotide variations.
Researchers continue to use independent approaches and techniques in order to interrogate these aberrations. This approach can be complex and costly, requiring expertise in multiple assays and consuming limited sample with multiple, sample-hungry workflows.
In this application note NuGEN demonstrate how their Ovation® Target Enrichment System can be used as a single, simple workflow suitable for use in the targeted analysis of a wide range of genomic markers, using Horizon Reference Standards to test both SNP and CNV detection.
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