Centogene’s latest Scientific Publications
A Dispute on Rare Disease Diagnostic Offerings
CENTOGENE was amongst the first providers of diagnostic Whole Genome Sequencing (WGS) and…
An Unusual Kind of Repeat Expansion Disorder
Repeat expansions are the cause of Huntington’s disease and several forms of ataxia. The…
Diagnostic Relevance of Intronic Variants
Proper splicing of mRNA requires certain DNA sequence motifs. Since these motifs are very…
Exemplifying the Strengths of Genome Sequencing
Certain genetic variants are easily missed by Exome Sequencing (ES), but readily detected…
Utilization of CentoMD® in Scientific Settings
The interpretation of newly observed genetic variants that are suspected to cause disease…
Turning Rare Disease Networks into Knowledge
CENTOGENE’s well-recognized expertise in Gaucher disease (GD) has helped to establish a…
Genetic Cause of Impaired Neurodevelopment
Development of the nervous system is a complex process, with NEUROG1 being one out of many…
Exemplifying the High Value of CentoMD®
Rare disease research usually focuses on pathogenic genetic variants. The lack of a…
A Rare Genetic Disease in Which Symptoms Naturally Improve
While most genetic disorders progress from mild to severe, a certain form of muscle…
Genetic Stratification of Patients with Parkinson’s Disease
While Parkinson’s disease (PD) is clinically homogeneous, it can result from a multitude…