ResearchThe exon ORF15 of RPGR is a mutational hotspot for X-linked retinitis pigmentosa (XLRP) accounting for two thirds of all disease-causing mutations. This study describes Blueprint Genetics' NGS-based diagnostic test with 100% sensitivity for variants in the difficult-to-sequence region in the ORF15.
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The role of the JPH2 gene in cardiomyopathies has been obscure as only one rare variant segregating with any type of cardiomyopathy has been published (Sabater-Molina M et al., Clin Genet. 2016). This study characterizes the cardiac phenotype related to JPH2 c.482C>A, p.(Thr161Lys) variant in nine Finnish index patients and their family members.
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Our goal was to develop a high quality next generation sequencing (NGS) platform, transparently and comprehensively validate its quality and performance, and report our experiences with hundreds of patients suspected with primary immunodeficiency (PID).
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We evaluated a WES assay that is specifically designed for clinical use, enables uniform sequencing coverage resembling high-coverage gene-panel based assays, and provides high sensitivity in variant detection.
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Analytic validation of SNV and indel detection in Whole Exome Sequencing assay shows high sensitivity and
specificity. In the analytic validation, the WES assay achieved 99.5% sensitivity, 99.9% specificity and 99.4% positive predictive value for detecting SNVs and 97.2%, 95.7% and 97.0% sensitivity for detecting INDELs of 1-10, 11-20, and 21-30 bases, respectively.
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We have developed a comprehensive set of next-generation sequencing tests for detecting single-nucleotide variants (SNVs), insertions and deletions (INDELs) and deletions and duplications (Del/Dups) in all inherited diseases. Our results demonstrate the analytic validity of the Blueprint Genetics’ sequencing panels and show that the technology is well-suited for clinical diagnostics of inherited disorders.
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We have developed and validated a low-coverage whole genome sequencing assay for genome-wide and high-resolution detection of copy number aberrations (CNAs) from inherited disorders. The analytical sensitivity was 0.765 for detecting CNVs of 25-50kb in size and 0.990 for detecting CNVs of over 50kb in size. The smallest detected deletion was 10kb.
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