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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 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 ‘Letter to the Editor’ by a competitor. We happily accepted the offer to draft a reply – advocating our…

  • 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 at least several dozen units. In a newly described neurological disorder, a single extra unit of a…

  • 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 with the histology of patient samples, an unusual intronic variant was recently revealed to be clearly…

  • 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 variant as the cause of a novel disorder. Teaming up with academic colleagues for functional studies on…

  • 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 database - CentoMD® - is frequently encountered by academic consortia in need of such information. A…