As of March 29, 2019, HGMD contains over 256,070 germline mutations--a major achievement in our understanding of rare and hereditary disease. For years, HGMD has been recognized as the defacto standard repository for heritable mutations. Curated by experts in the field of genetics, HGMD offers information you can trust, with an unrivaled breadth of coverage. The proof is in the numbers:
256,070 expert-curated, disease-causing germline variants
10,500+ summary reports listing all known inherited disease mutations
2,600+ peer-review journals mined by experts in the field of genetics
104,000+ peer-reviewed literature reports cited
14,500+ scientific publications cite HGMD
17,000+ new mutation entries per year
View the complete HGMD statistics
Mutations may now be viewed according to whether they have additional literature evidence (browse mutations - additional literature evidence). Categories include additional functional evidence, additional phenotypes and additional case reports.
To get the most out of your HGMD subscription, please watch the video tutorials available at our Resources webpage.
New ANNOVAR databases are now available.
Learn more about how ANNOVAR can be used with HGMD for variant annotation.
Watch a recorded webinar featuring ANNOVAR here.
Updated tracks have been released with HGMD 2019.1 content for all HGMD-related tracks. Additional major updates include TRANSFAC® release 2019.1, and PROETOME™ release 2019.1.
QCI Interpret for Rare and Hereditary Disease is clinical decision support software that provides current scientific and clinical evidence to classify variants according to ACMG and ACOG interpretation guidelines.
QCI Interpret connects you to HGMD, plus 25 additional public and propriety sources. The software provides you with an expansive variant bibliography with full transparency to the underlying evidence, enabling you report confidently and scale efficiently. Learn more
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.
View the complete HGMD statistics
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.
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 2018.1, PROTEOME™ release 2018.1.
Variant analysis is becoming more important than ever in clinical settings — which means every interpretation has to be based on the strongest evidence possible. Our new white paper, “HGMD and ClinVar: Avoiding the Knowledge Blind Spot,” is based on the premise that a shortcoming of genetic testing occurs when “valuable information that goes undetected due to inadequate mining and interpretation mechanisms.” It’s getting harder and harder for variant analysts to keep up: the number of published hereditary, disease-associated germline mutations has doubled in the last 10 years.
Two of the most common repositories used to look up variants are the Human Gene Mutation Database (HGMD®) and ClinVar. The white paper compares these databases on several fronts:
An independent review in 2013 found that just 20 percent of variants listed in ClinVar had clinical significance. HGMD included nearly 10 times as many clinically significant variants at the same time, and has continued to grow rapidly.
HGMD and HGMD Professional are frequently updated with expert-curated information, while ClinVar relies on volunteer submitters whose information may or may not be supported by peer-reviewed literature.
HGMD is very simple to navigate, making it easier for users to mine and interpret its breadth of content. A search for information about cystic fibrosis and then quickly scanning each result for relevant mutations, for instance, would take nearly 300 hours on PubMed, but in HGMD the same result could be achieved in just five minutes.
HGMD Professional is licensed exclusively through QIAGEN. To learn more, check out the full white paper.
This webinar highlights our highly accurate and integrated end-to-end NGS analysis solution for the discovery of novel, and clinically relevant, rare and inherited disease causing variants, from various sample types in just one step.
Dr. Anika Joecker, Global Product Manager, presents the easy to use end-to-end hereditary disease workflows in Biomedical Genomics Workbench and Ingenuity Variant Analysis, as well as the Allele Frequency Community – an extensive, high-quality, ethnically diverse collection of human allele data for use as a reference set. The presentation will also touch upon the impact of accuracy and time-savings associated with reducing the number of false positives when searching for disease causing mutations in NGS data.
If you'd like to know more about how our hereditary disease solution addresses the NGS analysis bottleneck by delivering seamless and highly accurate end-to-end workflows for the identification and interpretation of causal variants you should read our recent press release. A laboratory using this new hereditary disease solution can achieve a case solve rate as high as 100%, while significantly reducing the rate of irrelevant variants for follow-up by 98% to 100%. These close to perfect solve rates are not possible using any other bioinformatics solution available in the market today, according to the latest benchmarking study that we presented at ASHG. The solution is cost-effective and can handle a high volume of samples (for example, 18,000 whole genomes per year).
Biomedical Genomics Workbench
Ingenuity Variant Analysis
Press release: QIAGEN launches new bioinformatics solution hereditary diseases
