The HGMD contains 152,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM, and 5,300+ summary reports listing all known inherited disease mutations for a given gene characterized by six different pathogenic variant classes. The contract will strengthen clinical research and diagnosis for all partners involved.
Qiagen news release, July 29, 2014
Qiagen starts collaboration with BGI on Human Gene Mutation Database (HGMD) developed by BioBase