Posters Prevalence and characteristics of RPGR ORF15 variants in patients with inherited retinal dystrophies August 30, 2019 Pathogenic variants in RPGR account for 80% of cases with X-linked retinitis pigmentosa (XLRP). The C-terminal 567-aa exon ORF15 is a mutational hotspot for RPGR-associated retinitis pigmentosa. However, it generally performs poorly in standard sequencing-based assays due to a highly repetitive glutamic acid/glycine-rich sequence.
Posters Analytic Validation of a Next Generation Sequencing Based Primary Immunodeficiency Panel April 24, 2018 Research 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). Read more
Posters WES Assay with Boosted Clinical Content and Sensitive Del/Dup Detection Has a High Diagnostic Yield April 15, 2018 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. Read more
Posters Analytic Validation of Whole Exome Sequencing for Clinical Diagnostics of Inherited Disorders May 30, 2017 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. Read more
Posters Validation of OS-Seq panels for clinical diagnostics of inherited disorders May 30, 2017 Research 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. Read more
Posters Validation of low-coverage whole genome sequencing for detection of copy number aberrations in inherited disorders May 30, 2017 Research 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. Read more
