The Human Gene Mutation Database (HGMD®) Professional has over 456,000 inherited disease-relevant mutations and polymorphisms–nearly 55% more than in the public version. In 2022 alone, HGMD Professional added nearly 46,000 new mutation entries, which won't be available in the public version until 2025.
Only with HGMD Professional can you:
But that's not it. Check out the table below for a full comparison of HGMD Public vs. HGMD Pro.
| Feature | HGMD Public | HGMD Pro |
|---|---|---|
| Up-to-date content | ||
| Displays mutations 3 years or older | X | |
| Updates mutations every 3 months | X | |
| Search features | ||
| Search by gene symbol | X | X |
| Search by gene description | X | X |
| Search by OMIM number | X | X |
| Search by disease/phenotype | X | X |
| Search missense/nonsense variants | X | X |
| Search splice mutations | X | X |
| Search regulatory mutations | X | X |
| Search small deletions | X | X |
| Search small indels | X | X |
| Search gross deletions | X | X |
| Search gross insertions | X | X |
| Search complex rearrangements | X | X |
| Search repeat variations | X | X |
| Search by chromosomal location | X | |
| Search by HGNC/OMIM/GDB/Entrez ID | X | |
| Search by RefSeq transcript | X | |
| Search by gene ontology | X | |
| Search using operators (+,-,*,"") | X | |
| Search phenotype using UMLS semantic | X | |
| Search phenotype using HGMD phenotype | X | |
| Search references by first author | X | |
| Search references by PubMed journal | X | |
| Search references by PubMed ID | X | |
| Search references by publication year | X | |
| Search references by HGMD gene | X | |
| Search references by Medline journal abbreviation | X | |
| Batch search | X | |
| Advanced search (by substitution, motif, function,etc.) | X | |
| Display features | ||
| HGMD accession ID | X | X |
| Codon change | X | X |
| Amino acid change | X | X |
| Codon number | X | X |
| Associated phenotype | X | X |
| References | X | X |
| Misense/nonsense mutations | X | X |
| Splicing mutations | X | X |
| Regulatory mutations | X | X |
| Small deletions | X | X |
| Small insertions | X | X |
| Gross deletions | X | X |
| Gross insertions/duplications | X | X |
| Complex rearrangements | X | X |
| Repeat variations | X | X |
| cDNA sequence | X | X |
| Extended cDNA | X | |
| Mutation's first published report | X | |
| Related genes | X | |
| Gene ontology | X | |
| Variant class (DM, DM?, FP, DP, DFP) | X | |
| Gene aliases | X | |
| Mutation sorted by location | X | |
| Mutation sorted by phenotype | X | |
| Mutation sorted by author | X | |
| Mutation sorted by year | X | |
| Mutation sorted by entrydate | X | |
| Extra information (HGVS, VCF, rankscore, etc.) | X | |
| Comparison between hg19 and hg38 | X | |
| Amino acid comparison | X | |
| dbNSFP predictions (CADD, MutationTaster, SIFT, Polyphen, etc. | X | |
| Orthologous amino acid conservation comparison | X | |
If you're using the public version of HGMD, your data is 3 years behind. The HGMD Professional trial is 100% FREE and has ZERO commitment. The world's largest database of inherited human mutations is just a few clicks away.
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HGMD Professional 2022.2 is now available, expanding the world’s largest collection of human inherited disease mutations to 368,587 entries—that’s 6,354 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.
detailed mutation reports
new mutation entries in Q2 2022 alone
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. 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.
View the complete HGMD Professional 2022.2 statistics below.
WATCH OUR WEBINAR ON DEMAND
How to streamline your variant classification workflow with HGMD Professional
In this on-demand webinar, our experts discuss how you can streamline your variant classification workflows with HGMD Professional through real-world examples.
Watch the webinar here.
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.
HGMD Professional 2022.1 is now available, expanding the world’s largest collection of human inherited disease mutations to 362,233 entries—that’s 9,502 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.
detailed mutation reports
new mutation entries in Q1 2022 alone
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 2022.1. The number of inherited disease-associated germline mutations published per year has more than doubled since 2010 (within 10 years).
View the complete HGMD Professional 2022.1 statistics below.
WATCH THE JANUARY 20, 2022 WEBINAR ON DEMAND
How to streamline your variant classification workflow with HGMD Professional
In this on-demand webinar, our experts discuss how you can streamline your variant classification workflows with HGMD Professional through real-world examples.
Watch the webinar here.
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.
When a family has a child with a rare undiagnosed condition, a woman is diagnosed with an aggressive form of breast cancer, or a couple is planning their next chapter, they want assurance that the diagnostic labs that are analyzing and interpreting their genetic tests are using reputable, trusted, and up-to-date resources. That's why LabCorp, Genomics England, and other national reference laboratories use the Human Gene Mutation Database (HGMD) Professional.
The largest, expert-curated resource for finding disease-causing mutations, HGMD Professional gives diagnostic labs conducting germline NGS testing the best possible chance of confidently reaching a diagnosis.
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. Therefore, HGMD Professional does not contain erroneous information or include inferred genotypes (based on documented protein alterations) or inferred protein alterations (based on documented genotypes). It is the most trusted starting resource for answering the question, “Does this mutation cause human disease?”
“Next-generation sequencing has become a powerful tool to identify genetic variants that play a role in inherited diseases, providing a flexible technology platform that allows us to go from large-scale to highly targeted test panels that can be used for both clinical diagnostics and in studies of new therapies and diagnostics,” said Marcia Eisenberg, PhD and Chief Scientific Officer for LabCorp Diagnostics. “Having access to the most comprehensive and up-to-date catalogue of known mutations augments our existing variant classification expertise. This will allow us to continue to provide physicians and researchers with the best possible test interpretations, advancing LabCorp’s mission to improve health and improve lives.” Read the official press release here.
HGMD Professional is unique in that it not only catalogs disease-causing mutations in a centralized, easy-to-search database, it also provides users with detailed information about each mutation. For example, HGMD Professional provides information on genotype-phenotype relationships, literature references, HGVS descriptions, genomic coordinates, and, more recently, nucleotide-level annotations. This level of detail is not supported by AI-powered databases.
Thousands of clinical labs use HGMD Professional as an important resource for their informatics pipeline. For example, in addition to LabCorp, Genomics England uses HGMD Professional in 13 NHS Genomic Medicine Centres to aid in the analysis and interpretation of NGS tests for rare, inherited diseases.
Today with the advent of digitalization, there are a number of "comprehensive genomic search engines" that tout artificial intelligence as the best way to identify and interpret pathogenic variants from large quantities of data. However, artificial intelligence does not compare or replace human judgment.
| Feature | Expert Curation | Artificial Intelligence |
|---|---|---|
| Speed of curation | X | XXX |
| Quality of data | XXX | X |
| Reduced noise in data | XXX | X |
| Identification of published errors | XXX | n/a |
| Normalize to gene model (needed to compare mutations from different sources) | XXX | n/a |
| Minimize artifact mutations | XXX | n/a |
| Re-classify mutations | XXX | n/a |
X = low | XXX = high | n/a = not capable
In clinical diagnostic settings, labs cannot afford to misinterpret a mutation. While AI-powered databases offer greater curation speeds, they do so at a price: they only index articles (oftentimes just the abstracts), they do not re-classify mutations are more information comes to light, they have no way of reconciling discrepancies in variant reporting.
HGMD curators note that approximately 20% of articles have discrepancies in variant reporting that require additional scrutiny. Of these, 25% can be resolved by utilizing other information reported in the manuscript or by referring to supplementary material. However, about 75% of these ambiguities necessitate direct contact with the authors [1]. The HGMD curation team does contact authors directly if they encounter discrepancies in variant reports. AI-powered solutions do not offer this feature.
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Have questions? Want to learn more? Check out our HGMD Professional resource hub here.
References:
The Fall 2020 Release of the Human Gene Mutation Database (HGMD) Professional is available, expanding the world’s largest collection of human inherited disease mutations to 298,409 entries–that’s 9,063 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.
Whether searching for an overview of known mutations associated with a particular disease, interpreting clinical test results, looking for the likely causal mutation in a list of variants, or seeking to integrate mutation content into your custom NGS pipeline or data repository—HGMD is the defacto-standard repository for heritable mutations that can be adapted to a broad range of applications.
detailed mutation reports
new mutation entries in 2019 alone
summary reports listing all known
inherited disease mutations
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.
View the complete HGMD Professional statistics here.
Read more about the importance of having access to the most up-to-date and comprehensive database for human disease mutations in our white paper.
HGMD Professional helps clinical testing labs analyze and annotate next-generation sequencing (NGS) data with current and trusted information. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
To get the most out of your HGMD Professional subscription, visit our Resources webpage for case studies, technical notes, and video tutorials
NEW! HGMD on-demand webinar
In our new on-demand webinar, you will discover the power of HGMD Professional and see why reference labs around the world, such as LabCorp and Genomics England, use HGMD Professional in their clinical test interpretation. Through a live demonstration, you will learn how to use the online interface and downloadable database, as well as how to use HGMD Professional and ANNOVAR to produce a powerful in-house variant interpretation solution.
Watch the webinar here.
The Genome Trax™ 2020.3 is now available. Updated tracks have been released with HGMD 2020.3 content for all HGMD-related tracks. Additional major updates include TRANSFAC® Release 2020.3, and PROTEOME™ Release 2020.3.
For labs looking to generate clinician-grade reports for germline or somatic NGS 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.
Click here for a free demonstration of QCI Interpret.
