The spring release of HGMD Professional now contains a total of 224,642 mutation entries. That’s 4,372 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 batch search mode will now allow prioritization of variants by class (eg. DM class).
HGMD Professional is one of the most valuable resource in variant interpretation and research. Click below to download our whitepaper on how HGMD Pro helps clinical labs avoid the clinical blindspot which providing the most comprehensive resource for published, disease-causing, germline mutations.
This new version of ANNOVAR contains some minor fixes and improvements: fixed a bug in calculating upstream distance that print when -separate is specified in annotate_variation.pl, improvements to coding_change.pl to report more stopgain/stoploss and fix use-of-uninitialized-value issue, slight change to convert2annovar.pl to handle mal-formed VCF file. 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. Finally, the tatest 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.