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Monday, June 25, 2018

Announcing HGMD® Professional 2018.2!

The latest HGMD® Professional release is now available! Version 2018.2 contains a total of 232,443 mutation entries—that’s 7,801 more mutation entries than the previous release!

View the latest HGMD Professional statistics.

New HGMD Feature

References within mutation details now include the title of the cited journal articles.

As a reminder, HGMD Professional contains a significantly greater number of clinically relevant variants than ClinVar, OMIM, and SWISS-PROT, according to an analysis (Peterson et al., 2013),comparing variant mutation databases.

Read more about the importance of having access to the most up-to-date and comprehensive database for human disease mutations in our latest white paper.


A new version of ANNOVAR is now available! New features are listed below:
• Per user request, we have now made hg38 version of ensGene available through ANNOVAR
directly so that users do not need to build it themselves.
• avsnp150 is available through ANNOVAR now in hg19 and hg38 coordinate, to annotate your
variants with dbSNP identifiers.
• Latest clinvar (20170905) is available now through ANNOVAR in hg19 and hg38
coordinates. A long-standing problem on multi-allelic variants in ClinVar is now
addressed, so that multi-allelic variants are now correctly assigned to the corresponding
benign/pathogenic categories. The 20170130/20170501 versions are also updated to resolve
this issue.
• About 2.4 million Brazilian genomic variants with allele frequencies are available now in
hg19/hg38 coordinate. The data set comprises exomic variants of 609 elderly individuals
from a census-based sample from the city of São Paulo. Please use abraom as the keyword
to download and annotate, and refer to the original publication for details.
• pre-computed intervar scores (version 20180118) is available on both hg19 and hg38 now
with intervar_20180118 keyword. Only missense variants are included, and this is meant for
a quick-and-dirty analysis of most missense variants. For a more comprehensive/formal
calculation of scores, download https://github.com/WGLab/InterVar instead.
• Minor fixes and improvements.

Learn more about how ANNOVAR can be used with HGMD for variant annotation.

Updated tracks have been released with the HGMD release for all HGMD-related tracks. Additional major tracks updated include TRANSFAC® release 2018.2, PROTEOME™ release 2018.2.