Genetic variant database tool

Description

The solution will be used by clinical scientists from the regional healthcare system as well as researchers from the universities. They will log into the NCG HPC system and access the solution preferably through third party interpretation software, or directly via an internet browser. With the genetic variant database software/tool they should be able to filter variants based on several criteria, e.g. mutation type, pathogenicity score, disease, location in gene/genome etc. This section clarifies that any standard terms that are in conflict with the described use of licenses are set a side. Lot 1: 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 solution should be versatile and will be used to assist in the interpretation of data from many different patient groups. NGC wants to offer the genetic variant database software/tool solution to the regions and to universities for clinical use as well as for research. Thus the solution is not limited to the interpretation of clinical samples. The solution will be used by clinical scientists from the regional healthcare system as well as researchers from the universities. They will log into the NCG HPC system and access the solution preferably through third party interpretation software, or directly via an internet browser. With the genetic variant database software/tool they should be able to filter variants based on several criteria, e.g. mutation type, pathogenicity score, disease, location in gene/genome etc. This section clarifies that any standard terms that are in conflict with the described use of licenses are set a side.