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March 28, 2019
Sponsored by
Qiagen: Nov 16, 2014

The Human Gene Mutation Database: Empowering a Generation of Geneticists for Precision Medicine

Genome Webinar

Research Associate, Institute of Medical Genetics, Cardiff University

Senior Software Developer and Analyst, Institute of Medical Genetics, Cardiff University, Cardiff, UK

The Human Gene Mutation Database (HGMD) is a manually curated, comprehensive collection of disease-causing, germline mutations. Since 1996, a team of experts has manually catalogued over a quarter of a million mutations for the database.  

This talk will feature a retrospective view of HGMD, how it has grown over time, and the research that it has enabled. In particular, our speakers will talk about how HGMD has helped move precision medicine forward by providing translational research and diagnostic applications with the most comprehensive survey of literature on genetic mutations responsible for human inherited diseases, supporting standardized interpretation for germline diseases. 

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