HGMD® Professional version 2018.3 contains a total of 240,269 mutations entries—that’s 7,826 more mutation entries than the previous release!
Human Gene Mutation Database (HGMD®) is the gold standard industry-leading resource for comprehensive coverage of published human inherited disease mutations. Unlike other mutation databases, HGMD mutations are backed by peer-reviewed publications where there is evidence of clinical impact.
You can also prioritize variants by disease concepts via the drop-down menu.
Browse HGMD Phenotypes Mapped to Unified Medical Language System (UMLS) Terminology
You now have the ability to browse HGMD phenotypes mapped to the UMLS (grouped into disease concepts, e.g., blood disorders) during the phenotype search. You can also filter results using these disease concepts in batch search mode (see above).
Check out our whitepaper, “HGMD and ClinVar: Avoiding the Knowledge Blind Spot” to learn about the importance of having access to the most up-to-date and comprehensive database for human disease mutations.
To get the most out of your HGMD subscription, please watch the video tutorials available at our Resources webpage.
A new version of ANNOVAR is now available! New features are listed below:
ClinVar version 20180603 is available for use in ANNOVAR, with slight format changes, as compared to previous versions. Note, users are advised to use prepare_annovar_user.pl to make your own ClinVar database for use in ANNOVAR (see details here).