Audience: This webinar is geared towards those involved with genomic variation analysis and interpretation of SNP microarray data in a cytogenetics or molecular genetics lab.
Dom McMullan, BSc FRCPath
Consultant Clinical Scientist at West Midlands Regional Genetics Laboratories (WMRGL), Birmingham and leads the Rare Disease and Reproductive Genomics Programme. Lead Scientist for Rare Disease Genomics for the Central and South Genomic Lab Hub.
Consolidation of genomic laboratory services within England has ushered in a new demand for accessing data in a centralized location while also keeping it fully accessible to multiple sites throughout the country. West Midlands Regional Genetics Laboratories (WMRGL) arrived at the decision to move to a cloud-based data storage service using NxClinical as our software of choice for tertiary variant analysis of all microarray data. The combination of cloud-based analysis via NxClinical has allowed us to bring the economics of scale for wet-lab testing to a single site for standardization of analysis and turnaround time while also moving our analysis remotely across multiple sites during the pandemic for safe, secure, and timely case authorization. Further benefits of NxClinical have allowed us to combine legacy data, implement decision tree support for better quality results and easily access the ACMG and ClinVar pipelines providing pre-filtered results for a more in-depth analysis.