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
104,000+ peer-reviewed literature reports cited
14,500+ scientific publications cite HGMD
17,000+ new mutation entries per year
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.
Learn from one reference lab’s mistake and avoid missing critical evidence in the NGS interpretation process. Read white paper
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.
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