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.
Around two decades ago, the amount of data about cancer genomes began to increase rapidly. Managing, viewing, and searching for data from disparate locations, publications and databases became a significant challenge for researchers, bioinformaticians, and clinicians. Simple spreadsheets were no longer adequate enough to capture and house the data either.
To solve these issues, scientists at the Wellcome Sanger Institute developed the Catalogue of Somatic Mutations in Cancer (COSMIC) in 2004. COSMIC is the world’s largest and most comprehensive database of somatic mutations in human cancers. Through manually curation by experts for over 16 years, COSMIC holds all previously siloed high-quality somatic mutation information in one platform. The most recent release details more than 37 million coding mutations across almost 1.5 million tumor samples covering 1460 forms of human cancers.
COSMIC has gained several valuable features and functionalities over the years. Most of the early enhancements were focused on standardizing the genotypic and phenotypic terms and data formats used— making it possible to analyze data across different studies and cancer types.
Some of the more recent additions to COSMIC are:
And now, joining the COSMIC suite is the new ‘Mutation Actionability in Precision Oncology” product.
Actionability provides up-to-date information on drugs that target specific somatic mutations at all stages of development— from early case studies to clinical development all the way through to market. With Actionability, you can stay informed on the currently available drugs for a specific somatic mutation, the reasons behind clinical trial withdrawals or terminations, and the mutations being investigated outside of clinical trials. It curates this information from multiple sources, including clinical trials, journal articles, conference abstracts, corporate websites, and FDA submissions.
The first release of Actionability features manually curated data on 805 drugs, 1657 drug combinations, 181 genes, and a total of 2798 trials. The data is available in three forms: as a table organized per gene, as a complete download file, and as a sample file.
Since its inception, the COSMIC database has achieved its foundational goal—to be the source of all cancer genomic knowledge. It is the most comprehensive somatic mutation database available in the world. Now, COSMIC drives future breakthroughs and advances in cancer research and treatment.
Want to find out more about COSMIC and how it can support your investigations of cancer-causing mutations? Then watch our on-demand webinar on COSMIC.
