Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation with microarray data interpretation in a cytogenetics or molecular genetics lab.
Dale Wright, Head of Cytogenetics for Sydney Genome Diagnostics at The Children’s Hospital at Westmead, Sydney
We give an overview of our journey in transitioning from a CGH microarray (Agilent Technologies) to the 24-plex GSA Beadchip (Illumina) platform and NxClinical software (BioDiscovery). In a challenging funding environment, we took an unorthodox approach to validate NxClinical and the GSA Beadchip array off-site without upfront investment in an iScan, NxClinical or associated IT infrastructure. This involved NxClinical in-silico re-analysis of previous microarray data files [CGH array, 300K and 850K Beadchip) from 20 cases followed by in-house processing of 48 clinical samples to validate the GSA Beadchip. Beadchip scanning was outsourced to an external laboratory and data files supplied to BioDiscovery for analysis within NxClinical. Following the installation of the iScan instrument and deployment of NxClinical hosted on a virtual machine environment we completed the final validation steps in-house. We further defined analytical parameters for NxClinical, trained the CNV classifier, imported legacy data from 3000 samples, and built batch-import/export protocols between our LIMS, GenomeStudio, and NxClinical to capture quality metrics and provide batched sample integrity checks.