| 23 Septembre 2016
CentoMD® - the world´s largest genetic database for rare genetic disorders maintains ~3 million identified alleles, disease-associated polymorphisms, benign polymorphisms and other known variants of undetermined significance, thereof close to 60% of unpublished data. CentoMD® is quarterly updated with newly identified mutations at CENTOGENE and published literature. Interpretation of sequencing results remains the most complex and difficult step in genetic diagnostics. Since an excellent bioinformatics pipeline for variant filtering and annotation is pivotal to produce good data, the fundamental part in the diagnostic process is variant classification of their clinical significance for the patient. “Genetic data in the era of whole exome and whole genome sequencing result in hundreds of thousands of new variants with unknown clinical significance. With CentoMD®, we allow to revert to real case information from a global cohort of patients, combined in carefully curated datasets – and turn analytical information into actionable medical results,” stated Professor Arndt Rolfs, CEO of CENTOGENE.
(PresseBox) With the upcoming release of CentoMD® 3.1 end of September 2016, CENTOGENE will report genetic information and clinical data from more than 100,000 people worldwide. Information and data coming from this catalogue of global genetic information allow a massively better interpretation of genetic data and since it is linked to clinical data, it improves the medical care.
