Posters

JPH2 p.(Thr161Lys) is a Finnish founder mutation associating to hypertrophic cardiomyopathy with or without systolic heart failure and conduction abnormalities

30.11.2018

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.
Posters

Analytic Validation of Whole Exome Sequencing for Clinical Diagnostics of Inherited Disorders

30.05.2017

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.
Posters

Validation of OS-Seq panels for clinical diagnostics of inherited disorders

30.05.2017

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.
Posters

Validation of low-coverage whole genome sequencing for detection of copy number aberrations in inherited disorders

30.05.2017

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.