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

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

GenomeWebinar

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. 

Sponsored by

As the Canadian election season heats up, neither major party has really paid much attention to science, according to Nature News.

BBC News says the uncertainty over Brexit is affecting science funding in the UK.

A new app purports to tell users "how gay" they are by looking at their DNA, but experts tell Futurism that the app is bunk.

In Nature this week: human and great ape cerebral organoids reveal aspects of brain development unique to humans, and more.

Oct
21
Sponsored by
Agilent

Genomics is a key element in the potential of precision medicine to transform oncology. 

Oct
23
Sponsored by
Swift Biosciences

This webinar will illustrate how single-cell methylation sequencing can be applied to gain significant insight into epigenetic heterogeneity in disease states, advancing cancer research discoveries. 

Oct
24
Sponsored by
Sunquest

This webinar will tell the story of Versiti’s journey in transforming genetic testing from a manual to a digitized process. It will include detail on how the organization succeeded, pain points along the way, a novel approach to variant assessment, and future plans for the program.

Nov
04
Sponsored by
Roche

This webinar will provide a look at how the Institute of Hematopathology in Hamburg, Germany, is implementing complex genomic testing for lung cancer.