Software package and information systems

Description

The NGC will perform whole genome sequencing and bioinformatics analysis of samples from the regional healthcare system. The solution should be versatile and will be used for interpretation of data from the different patient groups. Initially the patient group is rare disease among children and young under 18 years. This group will for many cases be trio analysis and this should be supported by the interpretation solution. The solution will be used by the clinical scientist from the regional healthcare system. They will log into the NCG HPC system and access the relevant files from the bioinformatics analysis. With the interpretation solution they should be able to filter the data based on several sources of information, e.g. knowledge of frequencies within reference data, effect of the detected variants, possible inheritance pattern and phenotype information. The National Genome Center (NGC) is established as an element of the realisation of the National Strategy for Personalised Medicine 2017-2020 and 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. To achieve this vision, 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. The NGC will perform whole genome sequencing and bioinformatics analysis of samples from the regional healthcare system. The patient groups eligible for sequencing within the NGC framework will be selected through a process involving many stakeholders. It is anticipated that the NGC will sequence approximately 60 000 samples within the next 4 years. The solution should be versatile and will be used for interpretation of data from the different patient groups. Initially the patient group is rare disease among children and young under 18 years. This group will for many cases be trio analysis and this should be supported by the interpretation solution. The solution will be used by the clinical scientist from the regional healthcare system. They will log into the NCG HPC system and access the relevant files from the bioinformatics analysis. With the interpretation solution they should be able to filter the data based on several sources of information, e.g. knowledge of frequencies within reference data, effect of the detected variants, possible inheritance pattern and phenotype information.