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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HGMD Professional 2023.1 is now available, expanding the world’s largest collection of human inherited disease mutations to 410,743 entries—that’s 12,102 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 2023.1. 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 2023.1 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.
Rare Disease Day 2023 is February 28. It’s a day to raise awareness for the more than 475 million people living with over 7,000 rare diseases globally (1). In fact, rare diseases affect 10 percent of the world’s population (1). But despite their prevalence, rare diseases present significant challenges across the patient journey.
Diagnosis of rare diseases can often take five to seven years. Symptoms can be confusing; local institutions may not have the experience or infrastructure to make a timely diagnosis; and insufficient knowledge about the disease can hinder investigations. The long road to diagnosis presents one of the greatest challenges affecting the health, survival, well-being, and the very identity of people affected by a rare disease and their families.
Delays in diagnosis can lead to inappropriate disease management and disease progression. Patients are often misdiagnosed when symptoms present similar to another disease, and a misdiagnosis can lead to unsuitable interventions. For children with a rare disease, shortening the average five- to seven-year diagnostic journey could be a matter of life or death.
At QIAGEN Digital Insights, we are advancing and accelerating the diagnosis of rare and inherited diseases. For 25 years, we have been building the world’s largest, manually curated knowledge base of genomic data. Combined with our sophisticated bioinformatics solutions and standalone genomic databases, the QIAGEN Knowledge Base ensures clinicians, researchers, and pharmaceutical companies have access to the technology and data needed to make a timely, accurate diagnosis.
In this article, we discuss the challenges of diagnosing rare diseases, the impact of misdiagnoses, and how QIAGEN Digital Insights is helping to end the diagnostic odyssey.
A disease is considered rare when it affects a relatively small number of people. In the United States, rare disease (also known as orphan diseases) are defined as any disease affecting less than 200,000 people (2). Approximately 70 percent of all rare diseases are genetic in origin. And 72 percent of genetic rare disease present at birth or in childhood (2).
Rare diseases are difficult to diagnose. As a result, many patients with rare disease enter into a diagnostic odyssey. A diagnostic odyssey is the journey that a patient with a rare disease undergoes to receive an accurate diagnosis.
As we mentioned previously, diagnostic odysseys can be extremely long, often taking five to seven years. These journeys are frustrating, emotionally draining, and financially burdensome. Patients typically see multiple providers, undergo extensive testing, and receive several misdiagnoses.
At the end of the day, diagnosing rare diseases requires a multidisciplinary approach. The diagnostic odyssey involves healthcare and biotech companies, healthcare providers, researchers, and patient advocacy groups. By increasing awareness and knowledge, improving access to diagnostic tools, and investing in research and development of new treatments, we can shorten time to diagnosis from years to mere hours.
Misdiagnosis or delayed diagnosis of a rare disease can significantly impact the patient’s health, quality of life, and financial stability. Patients may undergo unnecessary treatments, suffer side effects from inappropriate medications, experience worsening conditions, and can lose their life. In addition, the emotional and financial burdens of a misdiagnosis can strain patients and their families.
QIAGEN Digital Insights’ mission is to advance molecular intelligence from bench to bedside. With a superior quality knowledge base powered by augmented molecular intelligence (AMI) and a comprehensive portfolio of bioinformatic software, services, and specialty genomic databases, we empower clinicians, researchers, and pharmaceutical companies to accelerate the integration of genomic data into decision-making.
Our sophisticated bioinformatics tools and unrivalled knowledge enable rapid and reliable diagnosis for patients with rare diseases. We collaborate with and support some of the most prestigious healthcare and research institutions in the world, including multiple national and multi-national consortiums focused on the diagnosis of inherited and rare diseases. To date, our clinical decision support software platform, QIAGEN Clinical Insights (QCI), has been used to interpret more than 3 million patient molecular profiles for hereditary and oncology diseases.
The diagnostic odyssey for patients with rare genetic diseases can be long and heartbreaking. But at QIAGEN Digital Insights, we are working hard to discover their genetic roots and characterize thousands of potential disease-causing variants to help generate diagnoses and new disease-related gene discoveries. Driven by our ability to give life-changing answers to patients, doctors, and researchers, we are ending the diagnostic odyssey of rare diseases one gene at a time.
HGMD Professional 2022.4 is now available, expanding the world’s largest collection of human inherited disease mutations to 398,641 entries—that’s 21,131 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 2022.4. 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 2022.4 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 2022.3 is now available, expanding the world’s largest collection of human inherited disease mutations to 377,510 entries—that’s 8923 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 2022.3. 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 2022.3 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.
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.
