HGMD Professional 2024.1 is now available, expanding the world’s largest collection of human inherited disease mutations to 510,804 entries—that’s 6,796 more than the previous release.
For over 30 years, HGMD Professional has been used worldwide by researchers, clinicians, diagnostic laboratories and genetic counselors as an essential tool for the annotation of next-generation sequencing (NGS) data in routine clinical and translational research. Founded and maintained by the Institute of Medical Genetics at Cardiff University, HGMD Professional provides users with a unique resource containing expert-curated mutations all backed by peer-reviewed publications where there is evidence of clinical impact.
HGMD Professional is powered by a team of expert curators at Cardiff University. Data are collected weekly by a combination of manual and computerized search procedures. In excess of 250 journals are scanned for articles describing germline mutations causing human genetic disease. The required data are extracted from the original articles and augmented with the necessary supporting data.
The number of disease-associated germline mutations published per year has more than doubled in the past decade (Figure 1). As rare and novel genetic mutations continue to be uncovered, having access to the latest scientific evidence is critical for timely interpretations of NGS data.
Figure 1. Mutation entries in HGMD Professional 2024.1. The number of inherited disease-associated germline mutations published per year has more than doubled since 2015.
View the complete HGMD Professional 2024.1 statistics, below.
Unlike new machine learning or artificial intelligence platforms that rapidly index millions of journal articles for mutations, HGMD Professional leverages human judgement and expertise—every catalogued mutation has been “touched” by a trained scientist to ensure accuracy, relevance, and context.
Learn more about the industry-leading database here, where you can explore features, watch videos, and request a complimentary 5-day trial.
We are pleased to announce that the Winter 2023 Release of QCI Interpret, QIAGEN’s decision support software platform for the annotation, classification, and reporting of somatic and germline variants, is now available.
Expanding on the software’s current capabilities, the QCI Interpret Winter 2023 Release brings new variant classification and assessment tools, functionality improvements, and even more variant content for prevalent hereditary diseases for faster, more informed variant analysis.
QCI Interpret now offers a new optional Triage Mode inline assessment tool to accelerate variant review workflows. The Triage Mode can be toggled on and off (Figure 1).
For novel unassessed variants, the Assessment, Actionability (somatic workflow only), and the Reportability values match the Computed Classification. Users can then add assessment notes (Figure 2). This new feature is intended to help high volume laboratories quickly assess and triage variants.
QCI Interpret’s literature coverage of genes, involved and associated with disease(s), strongly differentiates QCI Interpret from other decision support software by providing a fully certified and manually curated bibliography of approximately 1,000 genes with continuous expansion.
In the QCI Interpret Winter 2023 Release, the bibliography coverage is enhanced and expanded with a focus on genes that are routinely tested and proposed for carrier screening by the latest ACMG practice resource (Genetics in Medicine (2021) 23:1793–1806; https://doi.org/10.1038/s41436-021-01203-z).
Specifically, the bibliography coverage was fully certified and manually curated for Tier 3 genes with continued curation of Tier 4 genes, to provide a comprehensive and complete carrier screening interpretation workflow based on the latest ACMG recommendations summarized below:
In QCI Interpret, a new ClinVar column displays the assessment (P, LP, VUS, LB, B) and number of ClinVar submitters as pulled from the QIAGEN Knowledge Base. A hyperlink takes the user to the respective ClinVar VCV page (phenotype agnostic) (Figure 3).
Pathogenic (P), Likely Pathogenic (LP), VUS, Likely Benign (LB), and Benign (B) interpretations sent to ClinVar are tallied. The hyperlink takes the user to the NCBI variant specific page for additional detail.
For the complete QCI Interpret Winter 2023 Release Notes, please contact your QIAGEN Digital Insights account representative or email our support team at ts-bioinformatics@qiagen.com.
QCI Interpret is a clinical decision support software platform for the annotation, classification, and reporting of actionable alterations from NGS data for oncology and hereditary disease applications. Using augmented molecular intelligence and expertly curated content from the QIAGEN Knowledge Base, QCI Interpret applies a rules-based approach to automatically compute pathogenicity classifications (Pathogenic to Benign) and actionability classifications (Tier 1 to 4) for each alteration according to professional guidelines from ACMG/AMP and AMP/ASCO/CAP, respectively.
Pathogenicity and actionability classifications in QCI Interpret are accompanied by clear visibility into the criteria and evidence supporting the classifications. This workflow starts with a variant call format (VCF) file, so it is compatible with the output from any NGS platform. The final report includes the alterations, interpretations, and references specified throughout the assessment process, which has customizable automation capabilities allowing for streamlined clinical decision support workflows.
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
