Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy

Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy

Background: The aim of this study was to explore the rare variants in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM). Methods: Forty-five unrelated probands with HCM were screened by targeted next generation sequencing (NGS) of 47 core and emerging genes connected with HCM....

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Bibliographic Details
Main Authors: Miruna Mihaela Micheu, Nicoleta-Monica Popa-Fotea, Nicoleta Oprescu, Stefan Bogdan, Monica Dan, Alexandru Deaconu, Lucian Dorobantu, Oana Gheorghe-Fronea, Maria Greavu, Corneliu Iorgulescu, Alexandru Scafa-Udriste, Razvan Ticulescu, Radu Gabriel Vatasescu, Maria Dorobanțu
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Diagnostics
Subjects:
hypertrophic cardiomyopathy
next-generation sequencing
rare genetic variants
Online Access:https://www.mdpi.com/2075-4418/10/12/1061

Internet

https://www.mdpi.com/2075-4418/10/12/1061

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