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

Sponsored by: Thermo Fisher Scientific - Applied Biosystems

Speakers

Nicole de Leeuw, PhD

Team Leader Intellectual Disability & Congenital Anomalies, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
BIOGRAPHY
Kristina Cusmano-Ozog, MD

Medical Geneticist, Children's National Medical Center
BIOGRAPHY

Event Date & Time

DATE: August 9, 2018

TIME: 5:00pm CEST, 4:00pm BST, 11:00am EDT, 8:00am PDT

Abstract

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