Tutorials

HGMD: Sub-categorization of data

576 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.





Related videos

Tutorials

HGMD: Gene-centric search

850 views April 28, 2016

HGMD, the comprehensive database on human inherited disease mutations helps...

Tutorials

HGMD: Phenotype-centric search

681 views April 28, 2016

HGMD, the comprehensive database on human inherited disease mutations helps...

Tutorials

HGMD: Mutation report

521 views April 28, 2016

HGMD, the comprehensive database on human inherited disease mutations helps...

Tutorials

HGMD: Gene report

609 views October 14, 2016