HGMD® Professional is a unique resource providing comprehensive data on human inherited disease mutations to genetics and genomic research. It allows you to:
- Prioritize mutations from whole exome or whole genome sequencing.
- Uncover the impact of your human variants on disease risk, gene regulation, and protein function.
- Remove biologically irrelevant mutations and reduce the amount of mutations you have to investigate.
- Identify novel mutations not previously reported in the literature.
- Understand gene regulation changes in your variants by mapping novel mutations to known or predicted regulatory sites.
- Find disease genes, drug targets, and pathways linked to your variations.
- You must register to login to HGMD
- To request a login use Ask Librarian or email Jeremy Kupsco, firstname.lastname@example.org.
- Logins are for use by Emory Employees only.
- Please log off at the end of each session to prevent blocking other users access.
To log into HGMD click here.