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New CentoMD® 6.0 Update Brings Deeper Insights Into Rare Diseases
CENTOGENE GmbHMay 6, 2021 GMT
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