Audience: This webinar is geared toward those involved with genomic variation analysis and interpretation of Copy Number Variation from next-generation sequencing (NGS) data in cytogenetics, molecular pathology, or molecular genetics labs.
Reliable detection of copy number variations (CNVs) from next-generation sequencing (NGS) data has been a long-standing challenge. In this 30-minute webinar, Dr. Naga Guruju, Clinical Laboratory Director at PerkinElmer Genomics, will review his experience with NxClinical software and how enabling comprehensive CNV detection, analysis, and interpretation from NGS capture-based panels and WES allowed his team to efficiently solve a complex case of a Becker muscular dystrophy in a combination with Klinefelter Syndrome and a unique case of sex reversal due to an unbalanced translocation between X and Y chromosomes. PerkinElmer Genomics’ use of NxClinical facilitated visualization of genome-wide CNVs allowing the team to provide much-needed answers.
Learn more about the PerkinElmer Genomics assays reviewed in this webinar here: