June 28, 2017
Sponsored by
Agilent Technologies

Genomics for Developmental Disorders: Identifying the Right Tool for Clinical Research

GenomeWebinar

Chief of Medical Genetics Unit,

Meyer Children's University Hospital Firenze 

This webinar will address the advantages and challenges of using array-based comparative genomic hybridization (array-CGH) in the investigation of developmental disorders.

Array-CGH offers many benefits over conventional microscopy-based chromosome analysis and permits close scrutiny of chromosomal structure to detect genomic microdeletions and microduplications that are invisible in a conventional karyotype.

Array-CGH is now the first-line genetic test in the investigation of early developmental impairments and learning difficulties, especially if the clinical picture includes dysmorphism, abnormal growth, congenital anomalies, epilepsy and autism, alone or in combination. However, due to the technical content of the array-CGH report, as well as the uncertain clinical significance of many genomic findings, the results of array-CGH studies need careful interpretation.

In this webinar, Sabrina Giglio, Chief of the Medical Genetics Section at the University of Florence, discusses a range of considerations for investigators considering array-CGH, with a particular focus on ensuring adoption of the correct CGH platform based on the clinical question. For example, is it better to use CGH alone or in combination with single nucleotide polymorphism data? Which resolution is best? Should investigators complement CGH with other technologies, such as next-generation sequencing? Dr. Giglio will address these questions and more in her presentation.

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