CentoMD® offers a comprehensive summary of the clinical validity and causality of detected gene variants with their associated phenotypes, and is a valuable tool for identifying new disease genes through the correlation of novel genetic variants with specific, well-defined phenotypes from more than 115 represented countries.
Articles on Mutation Database
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Manifestation and Progression of an Ultra-Rare Disorder
Rarity is a major obstacle for comprehensively understanding certain genetic disorders, and thus the availability of case reports is critical. The disease course of a patient, who had been diagnosed at CENTOGENE with an ultra-rare condition termed ‘Congenital Disorder of Deglycosilation,’ was…
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Biomarcadores: acelerando diagnósticos y guiando tratamientos
Mira nuestro webinar sobre biomarcadores, donde discutiremos un enfoque multiómico, que combina información sobre la genómica, la proteómica y la metabolómica, para acelerar la interpretación de los datos y el desarrollo de biomarcadores que cambian la vida de las enfermedades raras.
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Biomarkers: Accelerating Diagnoses and Guiding Treatments
Watch our webinar, where Prof. Peter Bauer, MD discusses a multiomic approach to accelerate the interpretation of data and the development of life-changing biomarkers for rare diseases. Throughout the webinar, he will provide an overview of the challenges of diagnosing rare diseases and give…
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Consanguinity and Recessive Disorders
High consanguinity is associated with a high prevalence of recessive genetic disorders. CENTOGENE recently contributed to a study which confirmed this notion in Arab communities in Israel. Whole exome sequencing identified causative homozygous variants in >50% of patients with neurological…
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Genetics of the Blood-Brain Barrier
Proper function of the blood-brain barrier relies on the so-called tight junctions. In four families, one of which was identified at CENTOGENE, mutations in the tight junction-encoding gene JAM2 were recently shown to result in brain calcification.