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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 2018Speaker:
Dr. Soheil Shams
Founder & CSO
BioDiscovery, Inc. 

 

 


Highlights of the latest release of NxClinical
 for Variant Interpretation of any size ranging from SNVs to large CNVs. This presentation will highlight some of the new features in version 4.1 of NxClinical, a comprehensive solution for analysis and interpretation of CNV, AOH, and Sequence Variants in a single system. NxClinical integrates array and NGS data as well as allows users to consolidate tests to a single NGS assay - with CNV calling directly from NGS data. Here, CNV/AOH/SeqVar can be integrated from a single assay.


Key new features include: 

  • Enhanced trio/family analysis allowing extended family support and single recessive inheritance test for compound CNV and Seq Var events.
  • Parent of origin designation for UPD and CNV events.
  • Improvements to sequence variant interpretation engine with dynamic filtering of population  frequency, read depth, and quality, new transcript/regulatory elements annotation details, and finer control over filtering by variant consequences.
  • Support for new array platforms such as the CytoScan XON suite and Illumina Global Screening Array (GSA) allow use of BioDiscovery's gold standard calling algorithms for the latest technologies.