Mutation Database – CentoMD®
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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Optimization of diagnostic yield
The genetic knowledge around rare hereditary diseases is rapidly increasing. Patients having received a negative diagnostic report may thus gain from a re-analysis of their exomes or genomes. A recent CENTOGENE-initiated study provided impressive evidence for this hypothesis. In a set of patients…
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CENTOGENE’s Variant Prioritization: Big Data and AI Driving Rare Disease Diagnosis
With big data being a key enabler of any successful artificial intelligence effort, CENTOGENE is ideally suited to employ artificial intelligence (AI) in our diagnostic workflow.
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Comprehensive Carrier Screening
Carrier screening is a genetic test used to determine if a healthy person is a carrier of a recessive genetic disease. The goal of carrier screening is to help individuals understand their risks of having a child with a genetic disorder and review the range of options available to guide pregnancy…
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Validation of Gene Causality for Neurological Disorders
Validation of gene causality for neurological disorders by WES/WGS analyses in a diagnostic setting
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Targeting G Protein-Coupled Receptors
Unbiased chemoproteomic profiling of small-molecule interactions with endogenous proteins is important for drug discovery. For meaningful results, all protein classes have to be tractable, including G protein-coupled receptors (GPCRs). These receptors are hardly tractable by affinity pulldown from…