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Speaker informationBert Eussen  916 KLG
Ing. Bert Eussen
Senior Research Technician
Clinical Genetics, Erasmus MC Rotterdam, Netherlands

 

Hosted by BioDiscovery and Multiplicom

 

Audience
This webinar is geared towards those studying copy number variation from arrays or NGS and need an alternate method for validation of CNVs.

Description
Most diagnostic and research units use SNP arrays as their first tier method to analyze copy number variation (CNV).  A large number of the observed CNVs are rare and need confirmation by an independent method. Ideally, such an independent confirmation method needs to be fast, flexible and cost effective as often only a few samples need to be analyzed.

Multiplicom’s Whole Genome Multiplex Amplicon Quantification (WG MAQ) assay is a predesigned whole genome CNV detection tool that is integrated as supplementary data tracks within the Nexus Copy Numbersoftware (BioDiscovery). This novel integrated approach allows combined visualization of the WG MAQ assays and copy number events previously detected with NGS and microarray. This enables the customized selection of a WG MAQ for flexible and fast CNV confirmation based on the proven MAQ concept.

Bert Eussen and colleagues at Erasmus MC in The Netherlands have successfully implemented the WG MAQ assay strategy for confirming CNVs in their research and diagnostic routine. In this webinar Bert Eussen will demonstrate the robustness and flexibility of WG MAQ assays to confirm CNVs detected with NGS/WES and SNP array (Illumina).

The WG MAQ assay is a robust, simple and fast multiplex PCR assay comprised of 5 specific target amplicons and 6 generic control amplicons. Two WG MAQ data sets with an average amplicon spacing of respectively 125 and 30 kb are now integrated within the Nexus Copy Number software. Nexus Copy Number is an easy-to-use and robust software for analysis and visualization of copy number and sequence variants from microarray (aCGH and SNP array) and NGS (WES, WGS, targeted panels) technologies.