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.
Wednesday, March 25, hear from Dr. Anthony M Magliocco, CEO and Founder of Protean BioDiagnostics, as he discusses the application of whole exome sequencing for guiding clinical trial enrollment for patients with cancer.
The remarkable advances in precision medicine are unfortunately not currently available to all patients, especially those being treated in community cancer settings. This growing “gap” is now challenging the health system to provide cost-effective, scalable, innovative solutions for underserved patients. Protean BioDiagnostics was founded to close this gap and accelerate access to precision oncology for all patients, regardless of where they live. To this end, Protean has created an adaptable and innovative framework for rapidly deploying the latest companion diagnostics. Protean’s simplification of universal access to complex diagnostics is poised to change the practice of precision oncology in the community and truly “close the gap.”
In this webinar, you will learn more about
Date: Wednesday, March 25, 2020
Time: 11 am EDT
