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Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation in a cytogenetics or molecular genetics lab.

Soheil Headshot 2018

Speaker information
Dr. Soheil Shams
President , BioDiscovery, Inc.

DescriptionThis webinar is designed to highlight some of the new features and capabilities of NxClinical 5.0 scheduled to be released soon. With the latest version, NxClinical software continues to push the envelope in offering unique capabilities in integrated cytogenetic and molecular genetic testing with enhanced capabilities for both CNV and Sequence Variant analysis. Some of the new features that will be highlighted include:

  • Improved support for mosaicism and calculation of aberrant cell fraction.
  • Extensive support for gene panel testing including coverage QC testing for NGS samples as well as an automated phenotype based virtual panel design.
  • New phenotype based gene and regions prioritization approach.
  • Multiple enhancements for variant interpretation.