Danmark-København S: Programpakker og informationssystemer

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.