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

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Blueprint Genetics expands capabilities in the detection and confirmation of difficult-to-sequence regions

Published on October 17, 2018

The latest advancement in Blueprint Genetics’ production environment involves customized sequencing solutions for difficult-to-sequence genes, designed to maximize detection of clinically relevant variants. Currently, the most extensive developments are in genes SMN1/SMN2, PKD1 and RPGR (ORF15), associated with spinal muscular atrophy, autosomal dominant polycystic kidney disease and X-linked retinitis pigmentosa,…

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