Publications Relevance of titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy Jun 26, 2019 Sci Rep. 2019 Mar 11;9(1):4093. doi: 10.1038/s41598-019-39911-x. Abstract Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant…
Publications Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing Jun 17, 2016 Publication Here we report OS-Seq, a targeted resequencing approach that involves capturing and sequencing genomic targets on a sequencer’s solid-phase support, such as the Illumina flow cell, thereby overcoming many of the limitations encountered in targeted resequencing of human normal and cancer genomes. Read more
Publications Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development Jun 16, 2016 Publication Sequencing of channelopathy genes with the BpG Arrhythmia Panel revealed a de novo mutation in the CACNA1C gene in an adolescent with ventricular fibrillation but normal development, consequently not only expanding the phenotype of Timothy Syndrome Type 2 but also demonstrating the power of large gene panels. Read more
Publications Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy Jun 16, 2016 Publication OS-Seq technology was applied as a novel comprehensive diagnostic tool to explore the underlying genetic defects of dilated cardiomyopathy (DCM). Our study adds substantial evidence and highlights the importance of titin variants underlying DCM. Read more
Publications Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing Jun 16, 2016 Publication Finnish PAH experts and Blueprint Genetics performed a collaborative research project where they screened 21 PAH-patients with the Blueprint Genetics PAH Panel. Pathogenic base substitutions were identified in the BMPR2 gene in 29% of the Finnish PAH cases. Read more