High diagnostic accuracy provided by Blueprint Genetics’ technologies is essential for clinical diagnostics

Published on March 8, 2016

Sequencing is still one of the major steps where genetic diagnostics can go wrong. Despite all the breakthroughs during the past decade, the sequencing technologies available are still providing results that are far from perfect. The limitations of sequencing technologies are still one hurdle in applying genomics to everyday medicine. In a recent publication by Rachel Goldfeder et al (PubMed: 26932475, http://www.ncbi.nlm.nih.gov/pubmed/26932475), the authors report significant sequencing errors associated with today’s whole exome (WES) and whole genome sequencing (WGS). These errors can lead to inappropriate patient management and worse outcome. Todays next generation sequencing (NGS) strategies are still failing to cover regions that are hard to sequence, and a large proportion of human disease-associated genes are not covered perfectly in these analyses.

These technological limitations have been one of the driving forces at Blueprint Genetics. With our technological innovations one of our missions has been to develop genetic diagnostic platforms where sequencing quality is approaching perfection. Our OS-Seq technology provides uniform deep sequencing from the whole target region, which is the cornerstone for all NGS panels in our company’s portfolio. In addition to OS-Seq technology, our offering is now fulfilled by an in-house developed, clinical grade WGS-based deletion/duplication test. It provides highest accuracy for detecting deletions and duplications on a wide scale.

Blueprint Genetics

Last modified: 03.08.2016

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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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