VUS – the most maligned result in genetic testing


Variants of uncertain significance (VUS) are an aspect of genetic testing that is often seen as a challenge. How do I explain this result to my patient? Does this result change how I manage a patient? Senior geneticist Jennifer Schleit describes why variants are classified as a VUS and what can be done to advance reclassification.

Getting the most from exomes


Blueprint Academy How does high-quality sequencing coverage impact the identification of diagnostic variants? And what is the significance of NGS-based copy number detection in whole exome testing? In addition to these topics this Blueprint Academy educational webinar will discuss the genotype-first approach to exome analysis and why it is an effective method for variant identification.

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


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.