CENTOGENE Scientific Publications Header Articles

Scientific Publications

Science combined with clinical diagnostics enhances common knowledge to the benefit of the medical community. Explore our findings and stay informed about the latest discoveries.

A Genetic Cause for Infectious Disease

While infectious diseases are commonly connected to environmental factors, genetic defects in some genes can strongly increase a person’s susceptibility to infections. Data generated at CENTOGENE […]

Article
Apr 12, 2021
  • WES
  • WGS
  • Mutation Database
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The Importance of Neuronal Membrane Biology

Nerve cells have a uniquely large surface-to-volume ratio, suggesting a central role for proper membrane turnover in these cells. A recent study confirmed this paradigm by showing that a membrane […]

Article
Apr 11, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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A Dispute on Rare Disease Diagnostic Offerings

CENTOGENE was amongst the first providers of diagnostic Whole Genome Sequencing (WGS) and published real-life experience with this technology in 2020. That paper was subsequently challenged in a […]

Article
Feb 16, 2021
  • WGS
  • Mutation Database
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An Unusual Kind of Repeat Expansion Disorder

Repeat expansions are the cause of Huntington’s disease and several forms of ataxia. The affected repeat units are usually three to six nucleotides in length, and pathogenic alleles have accumulated […]

Article
Feb 04, 2021
  • Neurology
  • WES
  • WGS
  • Mutation Database
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Diagnostic Relevance of Intronic Variants

Proper splicing of mRNA requires certain DNA sequence motifs. Since these motifs are very diverse, the effects of variants in them are not easy to predict. By combining CENTOGENE’s genetic testing […]

Article
Feb 02, 2021
  • Mutation Database
  • WES
  • WGS
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Exemplifying the Strengths of Genome Sequencing

Certain genetic variants are easily missed by Exome Sequencing (ES), but readily detected by Genome Sequencing (GS). Utilizing the superiority of the latter technology, CENTOGENE identified such a […]

Article
Feb 01, 2021
  • Neurology
  • Dysmorphology
  • WGS
  • Mutation Database
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Utilization of CentoMD® in Scientific Settings

The interpretation of newly observed genetic variants that are suspected to cause disease requires knowledge about their occurrence in different populations. CENTOGENE’s uniquely rich and diverse […]

Article
Jan 25, 2021
  • Mutation Database
  • WES
  • WGS
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Turning Rare Disease Networks into Knowledge

CENTOGENE’s well-recognized expertise in Gaucher disease (GD) has helped to establish a global network of physicians interested in and aware of this rare metabolic disorder. The fact that CENTOGENE […]

Article
Jan 19, 2021
  • Hepatology
  • Metabolic Disorders
  • Neurology
  • Hematology
  • Biomarker
  • NGS
  • Mutation Database
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Genetic Cause of Impaired Neurodevelopment

Development of the nervous system is a complex process, with NEUROG1 being one out of many genes involved. The critical role of this gene was recently confirmed by CENTOGENE, when a patient with […]

Article
Jan 12, 2021
  • Neurology
  • WES
  • Mutation Database
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