AUG 09, 2018 05:00 PM CEST

Exon-level array: Bridging the gap between chromosomal microarray and next-gen sequencing

SPONSORED BY: Thermo Fisher Scientific - Applied Biosystems
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  • Team Leader Intellectual Disability & Congenital Anomalies, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
      Nicole de Leeuw has a Master of Science degree in Medical Biology (University of Utrecht, the Netherlands), a Master's in Nutritional Sciences (University of Illinois, USA) and a PhD in Molecular Biology from the University of Nijmegen, the Netherlands. She completed her four-year-training in clinical cytogenetics at the Nijmegen department of Human Genetics in 2003 and was subsequently appointed there as Clinical Laboratory Geneticist. Since 2012, she is leader of the theme Intellectual Disability & Congenital Anomalies within the Division of Genome Diagnostics in Nijmegen. Her main activities involve the application of genome wide SNP-based array analysis and Whole Exome Sequence (WES) data analysis of both nucleotide and copy number variants in constitutional genome diagnostics. Together with her colleagues she aims to efficiently identify the genetic cause of a patient's disorder and to unravel the underlying mechanism in order to provide adequate information for appropriate genetic counselling.
      She is actively involved in external quality assessment, she participates in national and international educational activities; she is supervisor of the Clinical Laboratory Geneticist training programme in Nijmegen, member of the European Cytogeneticists Association (ECA) board of directors and coordinator of the ECARUCA database (
    • 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:  August 9, 2018
      TIME:  5:00pm CEST, 4:00pm BST, 11:00am EDT, 8:00am PDT
      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.
      Radboud University Medical Centre Nijmegen utilize and Children's National Medical 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. In addition this webinar will compare the applicability and benefits of various technologies using real life research and clinical cases.
      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
      • Sharing customer cases that has benefited from an exon-level CNV assay

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