High-quality whole exome sequencing products now available

Published on November 24, 2016

Targeted high coverage deep sequencing of clinically relevant genes forms the basis of rare disease diagnostics for most patients. In clinical practice, however, we meet cases where the clinical phenotype is novel or complex and an optimal panel diagnostic strategy cannot be established. For these cases, Blueprint Genetics is now offering a whole exome sequencing (WES) option. Our WES offers a minimum mean coverage of 100x, and on average, 98.9% of genes’ coding regions are covered at least 15x (Agilent SureSelect V6), which represents one of the highest quality WES offerings in the market. A unique part of our WES analysis is our proprietary IBM Watson powered CLINT technology, which takes variant interpretation to a new level. This technology helps our team of geneticists and clinicians in the analysis and reporting process and ensures accuracy and efficiency. This self-learning technology makes the analysis reproducible, comprehensive and accurate.


Highlights of Whole Exome Sequencing (WES) at Blueprint Genetics:

  • Highly uniform sequencing depth across all protein-coding genes of the genome
  • Highly sensitive and specific detection of single-nucleotide variants and indels
  • Assay performs with high precision
  • Sanger confirmation of all clinically relevant variants
  • Clinical experts as part of the interpretation team
  • State of the art Blueprint analysis with CLINT technology
  • Results with TAT of 6-9 weeks
  • Transparent quality and performance
  • Blueprint Genetics’ amazing service and commitment to hereditary diseases


We offer four types of Whole Exome Sequencing products:


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Last modified: 07.06.2017


Difficult-to-sequence genes in ophthalmology: improved sequencing coverage and mapping quality in ORF15 enable unmatched diagnostic yield in XLRP

Published on April 30, 2018

Blueprint Genetics’ updated technology enables improved coverage and sensitivity in clinically relevant and challenging genes such as RPGR and especially the ORF15 region of this gene. Current next generations sequencing (NGS) strategies and standard Sanger sequencing do not adequately cover the RPGR ORF15 region, leading to poor sensitivity and decreased…

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