Join BioDiscovery at the 2013 ACMG Annual Clinical Genetics Meeting in Phoenix
March 19-23, 2013
Exhibit Theater Presentation
“A Unified Platform For Efficient Review of Copy Number and Structural Variants: From Arrays through NGS”
Friday, March 22, 10:30 – 11:00 – Phoenix Convention Center, Exhibit Theater 2
BioDiscovery Exhibit Theater Presentation
A Unified Platform For Efficient Review of Copy Number and Structural Variants: From Arrays through NGS
Friday, March 22, 10:30 – 11:00
Phoenix Convention Center – Exhibit Theater 2
Nexus Copy Number has been used by many groups to establish an efficient process of reviewing samples for copy number variation and for creating a local repository of samples as well as accessing various publicly available databases in the review process. In this presentation, we will describe the latest enhancements made to this platform to enable support for sequence variation data (point mutations, insertions, deletions, inversions) from any platform, including many of the popular next-generation sequencing (NGS) equipment. This system allows for review of samples with either or both CNV and SNV data generated from any platform. The presentation will review the system with a live demonstration.