Blueprint Genetics’ NGS panels achieve leading analytic validity

Published on August 29, 2014

Blueprint Genetics (BpG) is proud to publish extensive validations for NGS panels in detection of single nucleotide polymorphisms (SNPs) and small insertions & deletions (indels). It is widely recognized that sequencing quality has significant impact on diagnostic yield when utilizing NGS technologies. BpG´s mission is to provide the highest possible quality with clinical diagnostic grade NGS analysis.

We are constantly improving the quality of our diagnostic process. Our OS-Seq technology provides several advantages when pursuing the perfect read out of clinically relevant regions in human genome. The current quality and performance of our OS-Seq sequencing panels represents leading analytic performance in the market today. BpG’s panels have high median coverage of 613 (range 295-1065) on a nucleotide level. On average our SNP validation showed excellent performance (sensitivity 0.994, specificity 1.000 and accuracy 1.000). Our indel validation had a good sensitivity of 0.982 for 1-5 bp indels and 1.000 for 5-19 bp. The detailed analysis of our latest validation process can be accessed here.

Full transparency in analysis quality and performance is becoming a standard of genetic diagnostics. In addition to the publically available validation analysis, we provide our customers an access to the details of quality and performance of their referred patients. For more info contact our support and check our example statements here: example statement.

Blueprint Genetics Team

Last modified: 08.29.2014


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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