Cloud service for interpretation of genetic variants for Helse Bergen HF

Kort beskrivelse

The Customer’s Department of Medical Genetics (MGM) and the Department for Cancer Genomics (SKG) provide NGS-based diagnostic services for medical conditions arising from somatic and germline variants. Our NGS-based diagnostic 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 are 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, annotation, and classification of somatic variants generated by NGS.
• Filtration, annotation, and classification of germline and somatic CNVs generated by SNP-Arrays.

University Hospital of North Norway (UNN) has option to purchase.