CENTOGENE today revealed the growth in its knowledge-base of rare hereditary diseases. In today’s update to CentoMD® ̶ the Company’s data repository of epidemiologic, phenotypic and clinical data, since December 2018 the number of analyzed cases has grown by 16% to more than 360,000, and the number of total variants has increased by 26% to 9.3 million. This now covers data from over 120 countries, underscoring the important ethnic diversity of CENTOGENE’s knowledge-base.
For comparison purposes, ClinVar ̶ the freely available database contains 510,000 variants as of June 2019, while HGMD Pro contains 255,000 variants as of January 2019.
“We believe CentoMD® to be the world’s largest curated mutation database for rare diseases, and an important bridge between genetic variants and clinical interpretation ̶ with a significant number of unpublished variants,” said Dr. Arndt Rolfs, CEO CENTOGENE. “By following a strict data curation process, we are providing highly accurate data relevant to clinical diagnosis and decision-making.”
“Our detailed genetic, proteomic and metabolic analysis is the key to fueling the knowledge base of rare disease patient populations, helping to drive CENTOGENE’s biomarker development program, and supports our pharmaceutical partners in accelerating the development of orphan drugs. Ultimately our knowledge and expertise is for the benefit of our rare disease patients to help end the diagnostic odyssey that so many of them face.” Rolfs added.
CentoMD® contains data that combines variant information with proteomic and metabolomics information, in particular for high-throughput genes. Classification of variants in CentoMD® follows the American College of Medical Genetics and Genomics guidelines for uniform variant classification. With a highly qualified and standardized curation process, CentoMD® provides high-quality clinical interpretations of newly identified variants and also ensures that changes in variant classification will be communicated and reflected in clinical interpretations in a timely manner.
More information on CentoMD® (v5.4) can be found here.