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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.

Speaker information:

Description: 

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:

Whole Genome Sequencing » PerkinElmer Genomics

Whole Exome Sequencing » PerkinElmer Genomics

CNGnome® Test » PerkinElmer Genomics