The summer release of HGMD Professional now contains a total of 208,368 mutation entries. That’s 4,483 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
The original mutation viewer no longer reliably functions in many web browsers due to support for NPAPI being dropped by several vendors. There is a replacement now available (link via the HGMD gene home pages) which maps coding region mutations on to the HGMD cDNA sequence, via the cDNA page. This feature is under ongoing development.
If you are interested into a clinical-grade pathogenicity assessment for a given variant implementing the ACMG guidelines and including additional supporting data such as case counts in a hereditary cancer context, we recommend you take a look at QIAGEN Clinical Insight for Hereditary Cancer, which includes HGMD. The following is a table summarizing key features between HGMD Public, Pro, and QIAGEN Clinical Insight (QCI).
The following new database updates have been made available in ANNOVAR since the last release announcement.
Updated tracks have been released concurrent with the HGMD release for all HGMD-related tracks. Additional major tracks updated include TRANSFAC® release 2017.2, and PROTEOME™ release 2017.2. Release notes can be found here.
Note: This release will be available from July 7, 2017.
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