Chromosomal microarray (CMA) has been a powerful tool for the evaluation and diagnosis of individuals with intellectual disability, global developmental delay, autism spectrum disorder, and/or multiple congenital anomalies for over a decade. In that time, rapid advances have been made impacting the detection of copy number variants (CNV) through arrayCGH (aCGH) and next-generation sequencing (NGS) technologies. Despite the rapid development in technology and analysis of the human genome, many challenges of CNV detection, classification and clinical interpretation remain and continue to be uncovered. Join this webinar as we explore the history of CMA, current challenges and the impact of whole exome and genomes sequencing on its use in clinical practice.
Level of Instruction: Basic