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.

Multiomic Characterization of Rare Disease Patients

Applying a multiomic approach to rare genetic diseases has great potential to synergistically generate truly novel insights. CENTOGENE is therefore complementing its rich phenomic and genomic […]

Article
Jun 12, 2021
  • Biomarker
  • Multiomics
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Improving Diagnostic Options for Rare Diseases

A diagnostic strategy for rare diseases based on a combination of standard laboratory parameters has long been sought after. To help advance this approach, CENTOGENE actively participates in […]

Article
May 29, 2021
  • Biomarker
  • Metabolic Disorders
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Modifiers of Genetic Disease

Therapeutic strategies for monogenic diseases may be derived from the identification and understanding of disease-modifying factors. Researchers at CENTOGENE have been applying this rather novel […]

Article
May 27, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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A Novel Genetic Cause for Autoinflammation

Genetic inflammatory disorders are quite rare, particularly those presenting with a pathological increase, rather than decrease, of inflammatory activity. A global consortium, of which CENTOGENE was […]

Article
May 20, 2021
  • WES
  • WGS
  • Mutation Database
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Globally Rare – Locally Common

Genetic diseases that are generally rare may still have a high prevalence in certain geographic regions. As a major diagnostic partner for physicians in certain countries, CENTOGENE has been able to […]

Article
May 12, 2021
  • WES
  • WGS
  • Mutation Database
  • Neurology
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One Gene – Two Modes of Inheritance

While most genetic disorders have one clearly defined mode of inheritance, the existence of rare exceptions is being increasingly recognized. A recent diagnostic finding at CENTOGENE revealed that […]

Article
Apr 20, 2021
  • WGS
  • Cardiovascular
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Six Novel Gene-Disease Associations

While technology has advanced over the past ten years, more than half of patients with genetic diseases remain undiagnosed, even after applying genome-wide diagnostic approaches. By performing deep […]

Article
Apr 18, 2021
  • WES
  • WGS
  • Mutation Database
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Recognition of CENTOGENE's Scientific Expertise

Review articles constitute a unique type of scientific publication, as they summarize, rather than present, observations and interpretations. In prestigious journals, they are commonly provided by […]

Article
Apr 18, 2021
  • WGS
  • WES
  • NGS
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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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