We give an overview of our journey in transitioning from a CGH microarray (Agilent Technologies) to the 24-plex GSA Beadchip (Illumina) platform and N_xClinical software (BioDiscovery). In a challenging funding environment, we took an unorthodox approach to validate N_xClinical and the GSA Beadchip array off-site without upfront investment in an iScan, N_xClinical or associated IT infrastructure. This involved N_xClinical 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 N_xClinical. Following the installation of the iScan instrument and deployment of N_xClinical hosted on a virtual machine environment we completed the final validation steps in-house. We further defined analytical parameters for N_xClinical, trained the CNV classifier, imported legacy data from 3000 samples, and built batch-import/export protocols between our LIMS, GenomeStudio, and N_xClinical to capture quality metrics and provide batched sample integrity checks.

 

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.