Use of NGS panels and microarrays for CNV detection

Tuesday 1 November 2016
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Hear Douglas Hurd describe some of our recent advances in next generation sequencing (NGS) panel design to allow detection of both copy number variation (CNV) and single nucleotide variation (SNV) from a single assay. This presentation focuses on our work with the DMD gene and a small NGS panel for familial hypercholesterolemia.