The Spring release of HGMD Professional is now available.
Containing over 314,707 expert-curated disease-causing mutations, HGMD remains the largest, most trusted source of germline mutations. This new release has 7,341 more mutation entries than the previous one.
Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications demonstrating evidence of clinical impact.
New HGMD Pro Features
We have updated the reference sequences utilized by HGMD to annotation release 109.20200817 on GRCh38.p13 (RefSeq data freeze 2020/08/17).
Read more about the importance of having access to the most up-to-date and comprehensive database for human disease mutations in our White Paper.
Click here to read the white paper.
The webinar below provides a glimpse into HGMD, a demo of its advanced features, and some tips and tricks.
Click here to watch the webinar.
To get the most out of your HGMD subscription, please watch the video tutorials available our Resources Section.
ANNOVAR
International Cancer Genome Consortium version 28 (for hg19 and hg38) are available in ANNOVAR now. The ANNOVAR annotation databases are being moved to a new hosting server. We plan to still keep the old S3-based server as a CDN for Asia and Middle East to improve download speed; you can explicitly specify www2 (instead of default www) in the -downdb command line. The Clinvar 20210123 version is available in ANNOVAR in hg19/hg38 coordinates (file updated 20210204).
Genome Trax™
The Genome Trax™ 2021.1 is now available. Updated tracks have been released with HGMD 2021.1 content for all HGMD-related tracks. Additional major updates include Genome Trax release 2021.1, and PROTEOME™ release 2021.1. Please refer to GeneXplain for updated release notes on Transfac™ and PROTEOME™.
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