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Evaluation of Genetic Testing Platforms for Inherited Retinal Diseases

October 27, 2022

This article from the American Academy of Ophthalmology explores the different genetic testing platforms and evaluates the technologies available to aid in the diagnosis of inherited retinal degenerations (IRDs).

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

October 19, 2022

Comprehensive genetic testing for inherited retinal dystrophy (IRD) is challenged by difficult-to-sequence genomic regions, which are often mutational hotspots, such as RPGR ORF15. The purpose of this study was to evaluate the diagnostic contribution of RPGR variants in an unselected IRD patient cohort referred for testing in a clinical diagnostic laboratory.

Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia

October 19, 2022

Genetic variants are common in lung transplant recipients with pulmonary fibrosis and are most often related to telomerase function. A molecular diagnosis for telomeropathy does not seem to impact disease progression or the risk of complications or allograft dysfunction after transplantation.

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

October 26, 2021

Publication In this study, patient reports were retrospectively reviewed to assess the diagnostic yield, reported variant characteristics, impact of copy number variation, and performance in prenatal diagnostics of panel tests for variants in genes associated with skeletal dysplasia and growth disorders.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 disease diagnosis

September 24, 2021

Publication This study in pediatric epilepsy published in PLOS ONE supports the value of early genetic testing as a tool for making an accurate and an early diagnosis in children.

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.

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

February 10, 2021

Publication This study sheds light on the genetic causes of dilated cardiomyopathy by finding a strong link between the nebulin-related anchoring protein gene (NRAP) and autosomal recessive dilated cardiomyopathy.

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