HGMD License Renewal

The requirement is for a comprehensive and searchable manually curated literature-based database of germline human genomic variants and their relationship with human disease, with links to associated peer reviewed scientific literature references and variant classification. The successful provider will demonstrate class leading and significant experience in the area, peer reviewed publications illustrating utility in the diagnostic setting and that their database is up to date and covers the breadth of the peer-reviewed scientific literature. The database must enable users to: 1. Search extensively for rare and inherited disease associated variants; 2. Search extensively for information r…