Founded and maintained by the Institute of Medical Genetics at Cardiff University in 1996, HGMD attempts to collate all known, published gene lesions responsible for human inherited disease, giving users the confidence that catalogued mutations are properly reported and relevant. Unlike new machine learning or artificial intelligence platforms that rapidly index millions of journal articles for mutations, HGMD Professional leverages human judgment and expertise—every catalogued mutation has been “touched” by a trained scientist to ensure accuracy, relevance, and context. Consequently, HGMD Professional does not contain erroneous information or include inferred genotypes (based on documented protein alterations) or inferred protein alterations (based on documented genotypes). It is the most trusted starting resource for answering the question, “Does this mutation cause human disease?”

 

In this webinar, you’ll discover the power of HGMD Professional and see why reference labs around the world, such as LabCorp and Genomics England, use HGMD Professional in their clinical test interpretations. Through a live demonstration, you will learn how to use the HGMD Professional online interface and downloadable database, as well as how to use it in combination with ANNOVAR to produce a powerful in-house variant interpretation solution.

 

Learning Objectives