JAN 18, 2018 08:00 AM PST

Unravel the exome odyssey: overcome the challenges of exon-level CNV detection

  • Director, Cytogenetics Laboratory, Greenwood Genetic Center
      Dr. Chaubey came to the Greenwood Genetic Center in 2008 as a Clinical Cytogenetics Fellow. After completing her fellowship in July 2010, she assumed the position of Assistant Director of the Cytogenetics Laboratory and was promoted to Director in 2013. Dr Chaubey is responsible for overseeing the routine cytogenetics (chromosome analysis) and molecular cytogenetics (fluorescence in situ hybridization and genome-wide DNA microarray) testing performed in the Cytogenetics Laboratory. Dr Chaubey is also currently involved in the interpretation of microarray test results as well as several research projects at GGC. She is double board certified in Cytogenetics and Molecular Genetics by the American Board of Medical Genetics.
    • Medical Geneticist, Children's National Medical Center
        Dr. Kristina Cusmano-Ozog earned her medical degree at the University of South Florida where she also completed her training in pediatrics. She then relocated to Stanford University for training in Medical Genetics and Clinical Biochemical Genetics. She remained on staff for 3 years before moving to Washington DC where she accepted a faculty position at Children's National in 2011. In 2014, she took a brief hiatus to obtain additional training in Clinical Molecular Genetics through the National Institutes of Health. Dr. Cusmano-Ozog is ABMGG certified in Clinical Genetics, Clinical Biochemical Genetics and Clinical Molecular Genetics. Currently, she is an attending physician in the Division of Genetics and Metabolism and Co-directs the Biochemical Genetics and the Human Molecular Diagnostics laboratories at Children's National in Washington, DC.


      DATE: January 18, 2018
      TIME: 08:00am PST, 11:00am EST

      Current exon-level arrays and NGS techniques for CNV detection are plagued with a high number of false-positive calls and are challenging from a cost perspective when verifying numerous exon aberrations with orthogonal methods. Relevant gene lists continue to grow such that custom del/dup arrays out-date quickly and create laboratory inefficiencies with implementation and verification of new designs. These are only a few of the pain-points users experience given the current options in the marketplace for exon-level CNV analysis.

      Children's National Medical Center and Greenwood Genetic Center utilize a new, research tool for exon-level CNV detection, the Applied Biosystems™ CytoScan™ XON Suite. This tool comprehensively detects single-exon deletions and duplications in a cost-effective manner and can be used to complement NGS mutation analysis with its reliable exon-level CNV detection. This unique solution offers reporting flexibility whereby you may utilize your preferred gene list or customize your analysis to include various gene-level tiers selected for clinical research relevance. Thus, the user determines the areas of interest and is able to expand or restrict analysis for reporting.

      Both Children's National Medical Center and Greenwood Genetic Center were early access sites for the new CytoScan XON Suite and will be sharing their perspective, experience, and research cases thus far.

      Learning Objectives:

      • Understand the current challenges of exon-level analysis
      • Understand how a novel exon-level CNV assay can be used to overcome these challenges
      • Identify research cases that may benefit from an exon-level CNV assay


      For Research Use Only. Not for use in diagnostic procedures.

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