Knome incorporates HGMD information into its genome interpretation services

Oct 8 2009

Knome, a recognized pioneer in the personal genomics industry, announced today that it is incorporating information from The Human Gene Mutation Database (HGMD^® - Cardiff University, UK) distributed by BIOBASE, into its genome interpretation services. With over 93,000 mutations and disease-related polymorphisms in more than 3,500 genes, HGMD is one of the world’s most comprehensive databases of medically relevant genetic variation. Typically used by large research institutions and pharmaceutical companies, this is the first time the genomic data in the HGMD is being made available as part of a consumer offering.

Under the agreement, Knome will include HGMD in its KnomeXplorer™ genome browser software, and in its genome interpretation update service. The data will be continuously updated with the latest findings and distributed to Knome’s clients, giving them direct access to the most up-to-date information on a real-time basis. “Incorporating HGMD into our service will significantly expand the dataset used in our core analysis and enhance the content we provide to clients in our update service,” said Jorge Conde, CEO of Knome.

Unlike entry-level consumer genomic services that limit their focus to variants that are common in the general population, Knome informs its clients of even very rare variants that they carry, many of which are thought to be elusive causes of relatively common diseases, such as colorectal cancer and diabetes, that can dramatically affect health and quality of life. Every person likely carries many such variants, each one of which may -- due to its potentially debilitating effects in carriers or their children -- remain too rare to be included in entry-level SNP-chip based services. For example, the incorporation of HGMD adds an additional 1,698 mutations in 76 genes for colorectal cancer, and 1,435 mutations in 110 genes for diabetes, into Knome’s automated interpretation software.

Michael Tysiak, CEO of BIOBASE said, “Combined with their sequencing capabilities and interpretation services, the addition of our rare mutation database will enable Knome to provide even deeper insight into each client’s genetic profile and deliver greater customer value.”