Tutorials

HGMD: Sub-categorization of data

190 views
June 01, 2016

The Human Gene Mutation Database collects and presents a comprehensive list of mutations and polymorphisms reported as disease associated in the published literature. Each mutation is assigned to one of five categories based on the level of evidence that is presented for pathogenicity.

In this short video you will learn about the definitions for each of the categories and the evidence that is considered by HGMD curators.





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