Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation in a cytogenetics or molecular genetics lab.
NxClinical 4.0 is an enterprise wide system for analysis, interpretation, and reporting of genomic variants from wide variety of technologies/platforms (array and NGS). Improving on the integrated analysis features of NxClinical 3.0 (concurrent visualization and interpretation of CNV, SNV, and allelic events in one system), recently released NxClinical 4.0 is paving the way for the single assay paradigm (CNV, SNV, and AOH all obtained from one NGS assay). BioDiscovery's 4th generation BAM MSR algorithm is now incorporated into NxClinical to allow derivation of copy number from various NGS technologies (WES, WGS, targeted panels), streamlining the entire pipeline and allowing interrogation of CNV, sequence variant, and AOH from a single NGS assay.
The single assay paradigm
- saves time
- saves money
- creates effortless training and maintenance
- increases diagnostic yield
- allows for faster turnaround (especially important when urgent diagnosis is required).
The webinar will focus on the new features of NxClinical 4.0 including CNV estimation from NGS, enhanced trio analysis, a new design for a dynamic filtering schema, and virtual gene panels.