ResearchWe developed and validated a robust WES based genetic testing platform, with boosted clinical content tailored to inherited eye diseases (IEDs), and assessed the diagnostic yield of this assay in a large cohort of patients with IED.
Research
The 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.
Research
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).
Research
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.
Research
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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