Cloud service for interpretation of genetic variants for Helse Bergen HF

nostic approach involves both whole exome sequencing (WES) and targeted panels. In addition, we are performing copy number analysis (CNV), based on SNP array data generated using the Affymetrix platform. Our current analysis tools, Alissa and Bench software, are used for variant interpretation. We a

re now seeking an alternative system that can replace, and potentially surpass or enhance the functionalities of these tools. Our needs include:Filtration, annotation, and classification of germline variants generated by NGS. Filtration, an