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Whole Genome Sequencing – CentoGenome®

Whole genome sequencing (WGS) provides the most comprehensive genetic testing available for the detection of rare diseases. It identifies more different types of DNA sequence variation and offers greater sensitivity than any other technology available. It is the superior way to diagnose genetically complex and undiagnosed diseases with the highest level of certainty.

Articles on Whole Genome Sequencing

  • 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 a part of, recently identified a novel autoinflammatory disorder that primarily affects the nervous…

  • 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 systematically investigate patient cases based on highly uniform data sets. A corresponding study…

  • 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 mutations in PRKD1 can cause heart defects not only in an autosomal dominant, but also in an autosomal…

  • 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 genetic analyses and Bio/Databank mining, CENTOGENE discovered six novel gene-disease associations and…

  • 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 the most recognized experts in the field. A pertinent example involving CENTOGENE authorship was…