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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One Gene – Two Mutational Mechanisms
For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with multiple stillbirths, KIDINS220 can now be added to this list. A corresponding study, which was…
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A Variant-Specific Mutational Effect
A given genetic disorder is usually associated with numerous distinct mutations in the underlying gene. For a novel neurodegenerative syndrome, however, only a single TRAPPC4 variant seems to be causative. A cohort of 23 pertinent patients, many of which were identified at CENTOGENE, was published…
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Underlining the Diagnostic Superiority of Genome Sequencing
Technological options for genetic diagnostics have evolved rapidly, with genome sequencing (GS) being the latest addition. Evaluating the utility of GS in over 1,000 patients with a wide range of suspected genetic diseases, CENTOGENE underlined the superiority of GS over alternative approaches in a…
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Mechanistic Insights Into Cancer Predisposition
Genetic predisposition to cancer is tightly linked to an increased rate of somatic mutations. For one of the corresponding syndromes, the underlying defect has now been revealed to affect the DNA replication process. This insightful discovery, which involved researchers from CENTOGENE, was published…
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Understanding Parkinson’s Disease on a Global Scale
Current insights into Parkinson’s disease (PD) are largely based on studies in Europe and North America. A recent effort towards establishing a multi-ethnic understanding of PD resulted in intriguing findings in Malayan patients. The study, to which CENTOGENE contributed comprehensive genetic…