Whole Exome Sequencing is Revolutionizing the Diagnosis of Rare Diseases

CentoXome®: Whole Exome Sequencing in Clinical Practice


Did you know that our genomic haystack has…

  • 3,200,000,000 bases per haploid genome
  • >200,000 coding exons (>30,000,000 bases)
  • >4,000,000 “benign” variants (SNV) per individual
  • Many (>20,000) "benign" structural variants per individual
  • Molecular genetic diagnostics try to identify one (very few) mutant bases per genome

WES analysis extracts and generates sequence information for the part of the genome with the highest percentage of pathogenic variants, the exome. Sequenced variants are annotated with “all” information available…




Clinical Information is transferred to HPO terms, a standardized vocabulary of phenotypic abnormalities encountered in human genetic syndromes, supporting the variant prioritization process …




This filtration strategy is crucial to obtaining the disease-causing variant and is based on variant information and clinical information (HPO terms)…




… to identify the single or few variants associated with the given phenotype and allow a genetic diagnosis to be made. 

Whole genome analysis allows an even higher quality of sequence information and coverage and thus an extended whole exome analysis. It should already now be considered an alternative to WES analysis.




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