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