CENTOGENE drives CentoMD® - the world's largest mutation data base for rare diseases - to the next level
CentoMD®, the world’s leading proprietary human genetic interpretation database, is based on the knowledge created by our worldwide diagnostic testing services incorporating unprecedented global diversity. By analyzing thousands of genes across multi-cultural and ethnically diverse populations, CentoMD® is an ever growing systematically annotated dataset of identified variants correlated with clinical information and epidemiological data. It provides clear statements on clinical significance. Data from more than 74,000 diagnosed individuals and >22,000 genes are curated in detail, and the clinical significance of these variants is evaluated following strict guidelines and based on a sophisticated clinical Human Phenotype Ontology (HPO) system.
With the new release of CentoMD® 3.0, the medical community now has access to an advanced Phenotype-to-Genotype module that enables symptom-based queries and returns candidate genes as well as associated variants underlying the symptoms of interest. Vice versa, the Genotype-to-Phenotype module provides an interactive search interface to select and filter through genes, transcripts, variants. It enables users to access detailed variant and individual-related data based on ~2.2 million classified variants, including variants detected by whole exome sequencing.
“Understanding the burden of a disease to a patient, especially if it is a rare hereditary disease, is the daily work of us physicians. Revealing the cause of a disease will have an immediate impact on the patient. With CentoMD®, we continuously enhance the interpretation of mutations with a remarkable ratio of 56% not yet published clinical relevant variants and mutations. Using all available information allows physicians to diagnose and treat hereditary diseases in a much more efficient, speedy and targeted manner,” 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
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