Updates to CentoMD®, World’s Largest Genetic Mutation Database of Rare Diseases

CENTOGENE today announced updates to CentoMD®, the world’s largest genetic mutation database of rare diseases. The newest release further bridges the critical gap between genetic variants and clinical interpretation, by combining precise clinical genetic and biomarker information. Newly generated knowledge and data are now based off of disease causing variants confirmed by biomarker data. This unique combination standardizes and expedites the medical interpretation of these variants, coming from more than 300,000 individuals located in more than 115 countries.

CentoMD® provides information about the genotype-phenotype correlation based on clinical cases analyzed at CENTOGENE. The database is evidence-based and includes:

  • More than 62,000 classified and curated variants
  • More than 7.3 million variants, 58 percent of which are unpublished
  • More than 3,500 associated phenotypes
  • More than 13,300 human phenotype ontology (HPO) terms and approximately 330,000 individuals-HPO associations

“The biggest challenge in treating hereditary rare diseases is achieving an early diagnosis in order to identify the issue before it progresses too far and to provide counselling and start treatment as soon as possible. Unfortunately, the reality is that it can take more than five years on average to diagnose a rare hereditary disease. This is far too long,” said Dr. Arndt Rolfs, founder and CEO of CENTOGENE. “With our latest iteration of CentoMD®, we are providing clinicians and geneticists with the most complete information about genetic variants for making crucial diagnoses at the earliest possible moment.”

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