Expert-curated content to streamline variant classification for hereditary workflows
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Analyze with Precision. Interpret with Confidence.
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Trust HGMD Professional for the answers you need
When a family has a child with a rare undiagnosed condition or a couple is planning their next chapter, they want assurance that their doctors are considering every peer-reviewed paper and all available evidence in their quest for an answer.
HGMD Professional remains the largest, manually curated resource for finding disease-causing mutations. Founded and maintained by the Institute of Medical Genetics at Cardiff University, the database attempts to collate all known (published) gene lesions responsible for human inherited disease, giving you the best possible chance of reaching a diagnosis.
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Expert-curated content updated quarterly to keep you current
HGMD 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 next-generation sequencing (NGS) data.
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Figure 1. Mutation entries in HGMD Professional. The number of inherited disease-associated germline mutations published per year has more than tripled (3x) since 2010.
Why you should upgrade to HGMD Professional
If you currently use the public version of HGMD, there is a lot of content that you are missing. Not only is the public version of the database three years behind in terms of published mutation entries, it lacks a multitude of search features critical to elucidating clinically significant associations.
For example, only in HGMD Professional can you search for a mutation by chromosome location, gene ontology or phenotype. But that’s not all. See the full comparison between the public and professional versions of HGMD below.
see what you’re missing
Expanding into clinical test reporting?
For clinical labs looking to expand into hereditary disease testing, QIAGEN Clinical Insight (QCI) Interpret reproducibly translates highly complex NGS data into standardized reports using current clinical evidence from the QIAGEN Knowledge Base, which consists of over 40 public and proprietary databases, including HGMD Professional.
QCI Interpret for Hereditary Diseases delivers manually curated evidence directly to your pipeline. You receive links to all articles, auto-computed ACMG/AMP classifications, and access to over 1 million unpublished variant-phenotype relationships from the QIAGEN Knowledge Base.
QCI Hereditary Disease applications:
Hereditary cancer
Expanded Carrier Screening
Rare and undiagnosed diseases
Whole exome sequencing (WES)
Whole genome sequencing (WGS)
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Discover more disease-causing mutations
510,804
detailed mutation reports
All data is based on published, peer-reviewed literature that has been manually curated and evaluated for accuracy.
45,000+
new mutation reports per year
Every quarter, HGMD Professional content and functionality is updated to ensure you remain informed on the latest findings.
11,500+
detailed summary reports
For certain mutations, HGMD Professional includes summaries of disease-associated/functional polymorphisms.
Resources
Learn more about HGMD Professional
Human Gene Mutation Database (HGMD) Professional
Download this brochure to learn more about HGMD Professional, with detailed information on use-cases, applications, and customer testimonials.
Download Brochure
Rockefeller University Builds Mutation Analysis Tools with HGMD
Find out how scientists at Rockefeller University are using HGMD to rapidly sort through exome data and find disease-causing mutations.
Read Case Study
How to search by gene, mutation, and phenotype in HGMD Professional
Through step-by-step tutorials, we show you how to use a multitude of search functions only available in HGMD Professional.
View Video Tutorials
VIEW ALL HGMD RESOURCES
What's new in the latest HGMD Professional release?
The spring release is now available, adding 6,796 new entries to the world’s largest collection of human inherited disease mutations. In total, HGMD Pro 2024.1 now contains 510,804 expert-curated mutations.
WHAT'S NEW?
View the complete HGMD Professional statistics
Did you know the public version of HGMD is 3 years behind HGMD Professional? Explore our resources to view the complete database statistics, rate of publication, and access papers and tutorials.
EXPLORE RESOURCES
Avoid the knowledge blind spot
Elisha Cooke-Moore, a wife and working mother of five in southern Oregon, underwent a series of unnecessary surgeries, including a double mastectomy and hysterectomy. These surgeries were based on misinterpreted genetic test results, which led her to believe that she had pathogenic MLH1 and BRCA1 mutations.
These false positives and the corresponding inappropriate course of treatment pursued caused her to experience early menopause, multiple follow-up surgeries, and post-traumatic stress disorder.
The outcome could have been different if Elisha’s genetic test results had been correctly interpreted.
READ THE WHITE PAPER
Read now: “Avoiding the Knowledge Blind Spot: How HGMD Professional
Can Help Clinical Geneticists Avoid Misdiagnoses and Missed Information”
Using HGMD mutation data with popular variant annotation tools
Numerous free or open source variant annotation tools are available today to extract, annotate and analyze the genomes and their identified variants coming from NGS methods.
However, the value derived from variant annotation is directly related to the information resource selected for annotation. In thistechnical note, we provide a guide for using HGMD data with three tools: ANNOVAR, snpEff, and VariantAnnotation (Bioconductor).
READ THE TECHNICAL NOTE
Discover just how easy it is to incorporate HGMD into your existing variant annotation pipeline.
Human expertise vs. artificial intelligence: Can AI replace human curation of genetic variants?
Together with deep learning (DL) and machine learning (ML), AI is currently a buzzword across almost all scientific disciplines and has the potential to revolutionize diagnostic approaches in inherited diseases. But when it comes to variant curation, is AI capable of replacing human expertise? In a new study, Stanford University compares data quality from their Automatic Variant evidence Database (AVADA) to the Human Gene Mutation Database (HGMD).
READ THE WHITEPAPER
Use-Cases
How to search by gene, cancer type, and mutation Here, we show you how to search COSMIC for a gene, cancer type, and mutation using BRAF as an example.
COSMIC Main Page
To browseCOSMICyou can simply navigate to the main page and search for a gene, cancer type, mutation, etc in the search box. To illustrate we will explore the results for a single gene. TypeBRAFin the search interface and hit enter.
Search Results
If you select theBRAFresult, COSMIC returns a detailed page that provides: gene summaries, links to other COSMIC resources (e.g., Census genes, Hallmark genes, etc), external links, drug resistance, tissue distribution, genome browser view, mutation distribution, variants, and references.
BRAF Overview
First, let’s look at the Overview section. Along the top of this section there are several useful icons. The ‘Census gene’ icon tells us thatBRAFis a known cancer gene according to the Gene Census (see below). The next three icons tell us that it is also an ‘Expert curated gene’, that mouse insertional mutagenesis experiments support thatBRAFis a cancer gene, and finally thatBRAFis a ‘Cancer Hallmark’ gene. After these icons are many more details aboutBRAFincluding coordinates, synonyms, link to COSMIC-3D (see below), and more.
Gene View
Next, let’s examine the Gene view. The histogram of mutation (substitution) frequency shows a very dramatic “hotspot” of mutations at position 600 (e.g., p.V600E). Mouse over this part of the histogram to see details. This is a very well-known driver mutation in multiple types of cancer.
Tissue Distribution
Finally, navigate to the ‘Tissue distribution’ section. Sort the table by ‘Point mutations’ -> ‘% Mutated’. Notice that cancers of the thyroid and skin (e.g., melanoma) are by far the most consistently mutated at the BRAF gene locus (note NS means not specified). A subset of samples also display copy number variation (CNV) gains and up-regulated expression. In general certain predominanly mutated genes tend to be associated with cancers of certain origins. However, there are many exceptions to this statement and some genes (e.g., TP53) are widely mutated in many different cancer types.
COSMIC Main Page
Search Results
BRAF Overview
Gene View
Tissue Distribution
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Request a free trial of HGMD
Discover the difference of HGMD Professional with a free, no-obligation trial of the industry-leading database.
