Danmark-København: Programpakker og informationssystemer

The NGC will perform whole genome sequencing and bioinformatics analysis of samples from the regional healthcare system. Various interpretation software and tools will be used to identify specific variants relevant for further analyses, and the text mining software solution will then be queried for published information (found in online repositories such as PubMed, Google Scholar, SCOPUS) on these specific variants, e.g. publication history, population frequencies, clinical significance etc.. The solution should be versatile and will assist in the interpretation of data from many different patient groups.