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  1. Articles on Whole Genome Sequencing

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 Case Report with High Scientific Value

    The value of a case report can be correlated with the rarity of the disorder it covers. A recent paper, which was triggered by a genetic diagnosis issued at CENTOGENE, is of rather high value in this respect. Published in the Journal of Neurogenetics, it describes the 10th patient ever identified to…

  • Expanding the Genetics of Impaired Neurodevelopment

    The nervous system is particularly vulnerable to genetic defects, and novel pertinent gene-disease associations are still being discovered. A recent example is the link between impaired neurodevelopment and recessive loss-of-function variants in the gene NEMF. Two of the five families that are…

  • Novel Genetic Cause for Absence of Kidneys

    Renal defects are rather common in inherited disorders, while absence of kidneys is very rare. A focused analysis of CENTOGENE’s data repository CentoMD® revealed loss-of-function mutations in GFRA1 as a novel cause for this lethal condition. These findings were published in the Journal of the…

  • Utility of CENTOGENE’s Charity Genomic Testing

    Genetic disorders are prevalent in many developing countries, but access to genomic testing is limited. In the frame of a charity testing program, CENTOGENE has provided diagnoses for more than 200 Pakistani children over a one-year period. Of note, there were immediate steps that could be taken…

  • Characterizing a Rare Disease Through a Global Effort

    In the rare disease field, the compilation of large patient cohorts is a challenge, but necessary for understanding a disease and eventually enabling clinical trials. CENTOGENE therefore happily participated in a corresponding effort that focuses on the rare neurodegenerative disorder AP4-deficiency…