New CentoMD® 6.0 Update Brings Deeper Insights Into Rare Diseases
Centogene has launched CentoMD® 6.0, a major update to its rare disease mutation database, enhancing its capabilities for over 465,000 patients. The database now features more than 31 million unique variants, marking a 150% increase since 2020. Key improvements include new classification tools based on ACMG guidelines and enhanced HPO search features aimed at expediting rare disease diagnoses. A new biochemistry module has been added, providing deeper insights into rare diseases. The HPO-similarity source code is also released for global use to aid researchers.
- CentoMD® 6.0 expands to over 31 million variants, a 150% increase since 2020.
- Database now includes more than 465,000 analyzed patients linked to HPO terms.
- New features enhance variant classification and diagnostic capabilities.
- Release of HPO-similarity source code promotes global research collaboration.
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CENTOGENE’s rare disease mutation database offers new features and previously unpublished variants
- Database has grown to more than 465,000 analyzed patients, with more than 225,000 being linked to HPO terms
- Release includes increase of almost 19 million to over 31 million unique variants
- New features, including variant classification based on ACMG guidelines and streamlined HPO search tools, help to accelerate diagnosis and expand on resources for orphan drug development
- New biochemistry module expands on previous genetic testing foundation to further fuel the knowledge base of rare diseases
- HPO source code released for free use globally
CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, May 06, 2021 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on rare diseases that transforms real-world clinical and genetic data into actionable information for patients, physicians, and pharmaceutical companies, today announced the release of CentoMD® 6.0 – the Company’s rare disease database powered by its Bio/Databank. Equipped with new features, the database serves as one of the world’s largest sources of information for rare diseases – having grown to more than 465,000 analyzed patients from 120 countries.
This latest update underlines the Company’s continuous commitment to unlocking the deepest insights into rare diseases. CentoMD 6.0 has grown to include more than 31 million unique variants, an increase of
Ensuring users have the best access to information at their fingertips, the latest CentoMD update includes new and improved features, including:
- Updated classification tool according to ACMG guideline evidences to classify each curated variant
- Visualized branching structure for HPO parent and child terms to enhance searchability
- Integrated module to display individuals who have undergone biochemical testing
To better support the rare disease community, the Company has also released the HPO-similarity source code as free open-source on the platform GitHub. CENTOGENE hopes that this will help scientists around the world and set the standard for clear universal HPO term usage – further enhancing collaboration between researchers.
Bettina Goerner, Chief Data Officer at CENTOGENE, said, “Currently, rare disease patients spend an average of over eight years to receive a diagnosis. At CENTOGENE, we are committed to significantly accelerating this process. To do that, we have created a unique database of the most detailed, evidence-based genetic, proteomic, and metabolic information. From here, we are able to help our physicians and partners translate data into real-life medical solutions.”
Krishna Kumar Kandaswamy, CENTOGENE’s Senior Director of R&D Bioinformatics, added, “We are convinced that to make a true impact in diagnosing patients, we also have to understand the rare diseases themselves. This requires the combination of rich data and advanced technology – allowing us to dig deep and establish advanced insights into rare diseases.”
About CENTOGENE
CENTOGENE engages in diagnosis and research around rare diseases transforming real-world clinical and genetic data into actionable information for patients, physicians, and pharmaceutical companies. Our goal is to bring rationality to treatment decisions and to accelerate the development of new orphan drugs by using our extensive rare disease knowledge, including epidemiological and clinical data, as well as innovative biomarkers. CENTOGENE has developed a global proprietary rare disease platform based on our real-world data repository with over 3.9 billion weighted data points from approximately 600,000 patients representing over 120 different countries as of December 31, 2020.
The Company’s platform includes epidemiologic, phenotypic, and genetic data that reflects a global population, and also a biobank of these patients’ blood samples. CENTOGENE believes this represents the only platform that comprehensively analyzes multi-level data to improve the understanding of rare hereditary diseases, which can aid in the identification of patients and improve our pharmaceutical partners’ ability to bring orphan drugs to the market. As of December 31, 2020, the Company collaborated with over 30 pharmaceutical partners.
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