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.
The accurate identification and annotation of germline and somatic variants rely on the accuracy and depth of reference databases that contain information about the genetic variants, any associated phenotype, and their clinical implications. By combining COSMIC, HGMD and QIAGEN QCI-IT, scientists can annotate gene variants using the world’s most comprehensive and up-to-date curated scientific evidence and find biological connections in gene variants with manually curated scientific findings. The software and databases allow you to get valuable and reliable insights for your research project and speed up your discoveries related to disease-causing and disease-associated germline and somatic variants.
In this training, you will:
1. Learn about COSMIC, the world’s largest, most comprehensive, expert-curated resource for somatic mutations in human cancers, and how COSMIC can help you identify variants of interest for cancer research.
2. Hear about the breadth and depth of HGMD (Human Gene Mutation Database) and how HGMD can aid in your search for disease-causing and disease-associated germline mutations.
3. Explore the capabilities of QCI-IT, which can help accelerate your discoveries from hereditary or tumor cohort analyses, and find associations between gene variants and diseases from VCF files.
To learn more about the products or request for a trial:
COSMIC: https://digitalinsights.qiagen.com/products-overview/cosmic/?cmpid=CM_QDI_DISC_042024webinars
HGMD: https://digitalinsights.qiagen.com/products-overview/clinical-insights-portfolio/human-gene-mutation-database/?cmpid=CM_QDI_DISC_042024webinars
QCI-IT: https://digitalinsights.qiagen.com/products-overview/discovery-insights-portfolio/qci-interpret-translational/?cmpid=CM_QDI_DISC_042024webinars
In this webinar, users will learn how to leverage solutions from QIAGEN Digital Insights to discover biomarkers, validate targets, and identify variants. Specifically, users will learn:
1. How to locate public studies of interest using OmicSoft DiseaseLand.
2. Investigate the expression of genes of interest across different treatments, disease states, etc.
3. Identify variants of interest for candidate biomarkers and targets using the Human Gene Mutation Database.
4. Leveraging the QIAGEN Knowledgebase in Ingenuity Pathway Analysis to explore and extend findings from OmicSoft DiseaseLand and Human Gene Mutation Database.
5. Learn about additional methods to access data from OmicSoft, Human Gene Mutation Database, and Ingenuity Pathway Analysis for data scientists.
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.
Rejoignez-nous le 28 septembre pour découvrir comment HGMD Pro (Human Gene Mutation Database Professional) peut rationaliser vos recherches et analyses génétiques à travers diverses approches NGS. HGMD est une base de données de référence avec des mesures expertes de conservation et de contrôle de la qualité pour garantir l'exactitude et la fiabilité de ces données. Les utilisateurs gagnent du temps en éliminant le besoin de recoupement manuel des informations. Avec plus de 410 000 mutations pathogènes collectées et intégrées à partir de milliers de publications scientifiques, HGMD Pro est la source la plus complète de mutations germinales humaines disponible, organisée par des experts. HGMD est également indépendant des plateformes d’analyse secondaire utilisées, ce qui permet une intégration facile dans votre pipeline d'analyse existant.
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 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.
