EU Udbud Interpretation tool for somatic variants

Description

The Danish National Genome Center (NGC) was established to realise the National Strategy for Personalised Medicine 2017–2020. It is intended to ensure governance and coordination of the strategy’s initiatives at the national level. The Danish efforts within Personalised Medicine are to focus on the patients. The vision of NGC is to create a foundation for the development of a more precise diagnosis, targeted treatment and strengthened research within the Danish healthcare system. The core mission of the NGC is to establish and operate a state-of-the-art and secure national infrastructure for personalised medicine in cooperation with the Regions and universities. NGC routinely performs Whole Genome Sequencing (WGS) and subsequent bioinformatics analysis of samples from the regional healthcare system. Several patient groups with various diseases have already been enrolled, including cancer patients. For this, NGC needs an interpretation tool for analysing somatic variants. NGC sequences WGS samples at NGC’s sequencing facilities, followed by processing by bioinformatics pipelines developed in-house. After quality control, processed samples are relayed to clinical academics in the regional healthcare system for interpretation and treatment decision(s). The users of the solution will be clinical scientists from the regional healthcare system and researchers from the universities. Roughly estimated, we expect around 50-60 different sites/groups in Denmark, with 10 – 20 users per site/group. We anticipate around a maximum of 20 concurrent users. The users will log into the on-premise NGC HPC system and NGC Private Clouds, wherefrom they will access the interpretation tool solution, analyse data within the HPC infrastructure and decide the correct treatment strategy for the patient. Once relevant variant(s) have been identified, these will be parsed to a variant database that can be consulted if a new sample contains the same variant.