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.

To learn more about HGMD or speak with one of our rare disease experts, visit our webpage