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.
When it comes to NGS variant interpretation, content is king. But when your lab’s genomics software platform relies largely on data-sharing and crowdsourced information, how reliable are your reports?
Commercial genomics software platforms support molecular diagnostic workflows by providing unified interfaces connected to selected knowledge bases. These variant interpretation tools take a list of variants and return aggregated information retrieved from individual knowledge bases. This content is then used to filter and prioritize variants and ultimately derive a diagnosis and/or treatment recommendation. Therefore, a lab’s ability to accurately interpret a variant’s biological and clinical significance lies in the strength of its genomics software platform's knowledge base.
In recent years, crowdsourcing has become increasingly prominent as a means of supplementing the data obtained from more traditional sources, such as academic papers and drug labels. Around the world, initiatives and working groups, such as ClinVar, have developed centralized resources where users can submit variants reported in patient samples and assess their significance. Even commercial software companies, such as Sophia Genetics, have created “global data-sharing networks,” enabling their users to upload and share data with other users in the network.
While crowdsourcing is beneficial when it comes to solving challenging cases, there is one inherent issue: crowdsourced data lacks standardization. Clinical laboratories and medical institutions generate patients’ genetic variants through different sequencing protocols and NGS pipelines. This leads to genetic variants that are not interoperable. As a result, data contained in crowdsourced resources is not as reliable as data contained in a standardized, exert-curated knowledge base.
But there is an inherent dilemma: For many molecular diagnostic labs, purchasing a new variant interpretation platform is not option. The question then becomes, how can molecular diagnostic labs fill in the gaps of their crowdsourced data to ensure their variant interpretation is accurate and timely.
QIAGEN Digital Insights offers two proprietary databases that can supplement your lab’s current variant interpretation platform with trusted, expert-curated content.
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.
Unlike other competitors who offer little to no data curation or overload users with unhelpful literature and volumes of conflicting data, HGMD Professional combines electronic and human search procedures during data curation in order to provide high-quality information. For more than 30 years, a team of expert curators has consistently screened peer-reviewed biomedical literature in over 250 journals to update HGMD Professional.
A research team at Cardiff University updates HGMD Professional quarterly. As of November 2022, HGMD Professional contains over 377,510 detailed mutation reports and more than 11,500 expert-crafted variant summaries of disease-associated/functional polymorphisms. HGMD Professional adds over 45,000 mutation reports per year.
How can HGMD Professional boost your content?
→ Using the public version of HGMD? Your lab does not have access to over 3 years of expert-curated data contained in HGMD Professional. See what else you’re missing here.
The “somatic version” of HGMD Professional, the Human Somatic Mutation Database (HSMD) is a new somatic database developed by QIAGEN that contains extensive genomic content relevant to solid tumors and hematological malignancies. Available as a web-based application, HSMD contains content from over 4.2 million mutations from two sources. Content is curated from over 420,000 real-world clinical oncology cases and the QIAGEN Knowledge Base.
HSMD provides gene-level, alteration-level, and disease-level information, including clinically observed gene and variant frequencies across diseases. Clinically relevant content in HSMD is placed into the perspective of clinical treatments, providing the links between biomarkers and targeted therapies, and is backed up with relevant scientific and clinical evidence. Users can easily search and explore mutational characteristics across genes, synthesize key findings from drug labels, clinical trials, and professional guidelines, and receive detailed annotations for each observed variant. In addition, users can interrogate a bibliography of over 150,000 variant-specific PubMed articles. HSMD also provides access to individual summaries of alteration-type specific information written by PhD scientists.
As QIAGEN Clinical Insights, QIAGEN’s clinical decision support platform for variant analysis, interpretation, and reporting, continues to be adopted by a growing number of molecular diagnostic labs around the world (The platform recently surpassed interpreting over 3 million NGS patient cases worldwide), the data contained in HSMD is increasing at a compounding rate. HSMD adds a minimum of 70,000 new clinical oncology cases each year.
How can HSMD boost your content?
→ Learn how a national cancer research center in Serbia is using HSMD to confidently identify meaningful mutations in somatic tumor testing here.
Explore, search, and test HGMD Professional and HSMD for free. To demonstrate the quality, flexibility, and simplicity of HSMD, QIAGEN Digital Insights offers complimentary, 5-day trials of both expert-curated database. Start your free trial today.
→ Request your free trial of HGMD Professional here.
→ Request your free trial of HSMD here.
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.
Request your free trial of HGMD Professional today.
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The fall 2023 release of the Human Gene Mutation Database (HGMD) Professional is now available, adding 12,617 new entries to the world's largest collection of human inherited disease mutations. In total, HGMD Pro 2023.3 now contains 456,702 expert-curated mutations.
Four times a year, the Institute of Medical Genetics at Cardiff University releases new updates to its market-leading database, ensuring that clinical geneticists always have access to the most current and comprehensive collection of expert-curated germline mutations. This, in turn, safeguards patients from misinterpretations and misdiagnoses.
In our most recent white paper, we share a real-life story that underscores the critical importance of precision and accuracy in clinical diagnostics. The case revolves around a 2-year-old experiencing seizures and muscle twitches whose family experienced deep emotional turbulence after her diagnostic Whole Exome Sequencing (WES) test was misinterpreted. If you'd like to explore the case further and understand how HGMD Professional could have could have played a pivotal role, we invite you to read the complete white paper here.
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 2023.3. 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 2023.3 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.
The summer 2023 release of HGMD Professional is now available—and with 33,342 new entries in just 3 months, it's an impressive expansion of the world's largest collection of human inherited disease mutations. In total, HGMD Pro 2023.2 now contains 444,085 entries.
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 2023.2. 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 2023.2 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.
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.
HGMD Professional 2021.4 is now available, expanding the world’s largest collection of human inherited disease mutations to 352,731 entries–that’s 8,719 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 2021 alone
summary reports listing all known
inherited disease mutations
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.
View the complete HGMD Professional 2021.4 statistics here.
In an on-demand webinar, our experts discuss how you can streamline your variant classification workflows with HGMD Professional through real-world examples.
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.
The Winter 2020 Release of the Human Gene Mutation Database (HGMD) Professional is available, expanding the world’s largest collection of human inherited disease mutations to 307,366 entries–that’s 8,957 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 2020 alone
summary reports listing all known
inherited disease mutations
We have updated the reference sequences utilized by HGMD to annotation release 109.20200817 on GRCh38.p13 (RefSeq data freeze 2020/08/17).
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
HGMD on-demand webinar
In our latest 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 dbNSFP v4.1 is available in ANNOVAR for annotation on hg19 and hg38 coordinate (keyword dbnsfp41a is for academic use, dbnsfp41c is for commercial use). You can learn more about ANNOVAR here.
Genome Trax™ 2020.4 is now available. Updated tracks have been released with HGMD 2020.4 content for all HGMD-related tracks. Additional major updates include Genome Trax release 2020.4, and PROTEOME™ release 2020.4. Please refer to GeneXplain for updated release notes on Transfac™ and PROTEOME™.
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.
QIAGEN Digital Insights is introducing a new login URL to access HGMD, ANNOVAR, Genome Trax, and PGMD. This new login will be more robust with enhanced security and built-in privacy. If you need access to other QIAGEN Digital Insights products, such as QIAGEN Ingenuity Pathway Analysis (IPA) and QIAGEN Clinical Insights (QCI), you will use the same login ID.
We will roll-out this new login URL to select HGMD, ANNOVAR, Genome Trax, and PGMD users mid-August 2020. Please look for the welcome email with the new login information, including the new login URL for accessing your database and downloads. Be sure to check your spam and trash folders.
Users with subscriptions that end in 2021 or beyond will receive notice to bookmark the new login URL and use this method going forward. For users with subscriptions ending at the completion of 2020, please continue to use the existing login portal.
If you have questions about this new login procedure, please contact us at ts-bioinformatics@qiagen.com
