CENTOGENE's genomic database allows decoding rare genetic information - CentoMD® 3.1 bursts the 100,000 real case line
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polymorphisms, benign polymorphisms and other known variants of undetermined significance, thereof close to 60% of unpublished data.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.
CENTOGENE is a worldwide leader in the field of genetic diagnostics for rare hereditary diseases - with the largest test portfolio worldwide. Testing samples from over 100 different countries allows CENTOGENE a unique insight into epidemiological basis of hereditary disorders, which is crucial in the medical result interpretation process. The company is strictly focusing on offering quality molecular genetic diagnostics, underlined by its multiple international accreditations (ISO, CAP, CLIA). CENTOGENE's in depth medical expertise is supported by the application of cutting-edge technologies including next generation sequencing, whole exome sequencing (CentoXome®), whole genome sequencing (CentoGenomeTM) and innovative biomarkers for selected diseases. CENTOGENE has developed a comprehensive mutation database (CentoMD®) that is pivotal to offering high quality diagnostic reporting and medical interpretation; thoroughly interpret each patient's sequence data. With many years' experience in molecular diagnostics, EXTAN® kits are the result of intensive research and development, offering a validated solution to laboratories worldwide to expand their test portfolio reliably. In addition to diagnostic services for individual patients, CENTOGENE is also a pivotal partner for multiple renowned industrials worldwide. CENTOGENE has affiliations in Germany, India, Canada, Austria, and the United Arab Emirates.
For more information, please visit www.centogene.com and info.centomd.com