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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

March 15, 2021

Publication The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies and carefully selected patient cohorts. In this study, our goal was to evaluate the diagnostic yield of genetic testing in a heterogeneous cohort of patients with a clinical suspicion of HCM, referred for genetic testing from multiple centers around the world.

Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy

June 17, 2016

Publication As a continuation to Blueprint Genetics recent collaborative studies on genetics of dilated cardiomyopathy (DCM) (Eur Heart J 2015 and PlosOne 2015), we performed meta-analysis of truncating titin variants in DCM.

Prevalence of Titin Truncating Variants in General Population

June 17, 2016

Publication We carried out systematic analyses of TTN truncating variants (TTNtv) in publicly available reference populations, including, for the first time, data from Exome Aggregation Consortium (ExAC). The goal was to establish more accurate estimate of prevalence of different TTNtv to allow better clinical interpretation of these findings.

Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing

June 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.

Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development

June 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.

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

June 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.

Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing

June 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.

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