Next-generation sequencing is quickly taking a more central spotlight in understanding both rare and common diseases. Every day there are reports about new discoveries being made – discoveries, which inevitably produce thousands of variants. The ability to separate known variants from novel variants is one of the most important steps in solving any disease case, and it’s a process informed by existing knowledge about the variants’ associated diseases. Since this critical first step helps to determine the scope and focus of research efforts, it’s vital to use a reliable and continually refreshed knowledge platform.
In the world of published inherited disease mutations, the Human Gene Mutation Database (HGMD®) is the gold standard platform. This repository of comprehensive data is the result of efforts by scientific experts who regularly scour scientific literature for recent discoveries, which are then vetted through an extensive manual curation process. To date, HGMD has been cited in more than 5,000 scientific journals. The database includes more than 6,800 gene summary reports listing all known inherited disease mutations for a given gene characterized by five different variant classes.
HGMD’s wide adoption, broad range of research applications, and breadth of accurate content makes it an ideal resource when taking that first step in research efforts to understand the causal agents of disease. To demonstrate the broad applicability of this platform, we’ve created a series of videos based on Monthly National Disease Awareness programs.
These disease awareness videos illustrate HGMD’s unique combination of analytical tools plus content, helping researchers to rapidly identify and prioritize variants and get to the genetic basis of disease. They show how HGMD can save you days of literature research time while providing a view into its most powerful features — all while connecting to the mission of disease awareness foundations.
Learn how HGMD can help capture the mutational spectrum of breast cancer in October’s feature:
Video series – Monthly Disease Awareness
Prostate Cancer (September)
HGMD helps you isolate the causal genes associated with prostate cancer, with ease. In this installation of our video series we demonstrate how HGMD can be used as a resource to inform the selection of genes to be included in a hereditary prostate cancer gene panel, or to simply inform further research efforts into this prevalent disease.
It’s estimated that 10% of the population inherits one or more of the mutations associated with the predisposition to psoriasis. In this video we show how easy it is to identify the list of associated mutations spanning more than 30 genes, and to sort the results by criteria such as mutation type, variant class, phenotype description, and more.
Juvenile Arthritis (July)
Arthritis is not just a disease for adults; kids under the age of 16 can get this progressively debilitating disease, which eventually leads to life-changing complications such as blindness. This brief video demonstrates how HGMD can be applied to quickly distinguish between previously published predisposing germline and as-yet uncharacterized mutations associated with arthritis.
Autoimmune Disease (June)
Due to the overlapping presentation of clinical symptoms, autoimmune diseases can be difficult to diagnose. In this video we demonstrate how HGMD can help unravel the genetic diversity that underlies this complex clinical presentation. Myasthenia gravis is presented as a test case for demonstration.
HGMD requires just two quick searches to identify the comprehensive list of genes and mutations that have been published with evidence of association with osteoporosis. In this video we demonstrate how, in a matter of minutes, we can assemble a list of 92 mutations spanning 19 genes.