When a family has a child with a rare undiagnosed condition or a couple is planning their next chapter, they want assurance that their doctors are considering every peer-reviewed paper and all available evidence in their quest for an answer. The Human Gene Mutation Database (HGMD) Professional is the largest, expert-curated resource for finding disease-causing mutations.

Founded and maintained in 1996 by the Institute of Medical Genetics at Cardiff University, the database attempts to collate all known (published) gene lesions responsible for human inherited disease, giving you the confidence that the catalogued mutation is 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 judgement and expertise—every catalogued mutation has been “touched” by a trained scientist to ensure accuracy, relevance, and context. Therefore, 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 will 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 interpretation. Through a live demonstration, you will learn how to use the online interface and downloadable database, as well as how to use HGMD Professional and ANNOVAR to produce a powerful in-house variant interpretation solution. 
About the speaker
Rupert Yip, Ph.D., Director of Clinical Genomics, Genetic Disease Informatics
An industry veteran, Rupert has helped early NGS companies including Life Technologies and Illumina successfully commercialize their sequencing platforms while making bioinformatics more accessible to the late adopters. As the leader of QIAGEN Bioinformatics' Hereditary Disease Portfolio, he is responsible for QIAGEN's Knowledge offerings including HGMD, CentoMD, QIAGEN Knowledgebase, and Ingenuity Variant Analysis. Rupert has a Masters in Computer Science and a PhD in Physiology. He was a Howard Hughes Postdoctoral Fellow in Genetics at Harvard Medical School before joining the ranks of industry.
Date of recording:Tuesday, May 26, 2020
Duration:60 minutes
Informatics & Data
Next Generation Sequencing