The winter release of HGMD Professional now contains a total of 220,270 mutation entries. That’s 6,112 more mutation entries than the previous release. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
New HGMD feature
HGVS nomenclature has been added for the non-coding micro-lesions and regulatory substitutions.
HGMD Professional is one of the most valuable resource in variant interpretation and research. Click here to download our white paper on how HGMD Pro helps clinical labs avoid the clinical blind spot which providing the most comprehensive resource for published, disease-causing, germline mutations.
There are no new updates with ANNOVAR with this release.
Learn more about how ANNOVAR can be used with HGMD for variant annotation.
Updated tracks have been released concurrent with the HGMD release for all HGMD-related tracks. Additional major tracks updated include TRANSFAC® release 2017.3, PROTEOME™ release 2017.3. Release notes can be found here.