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

Miruna Mihaela Micheu Nicoleta-Monica Popa-FoteaNicoleta OprescuStefan BogdanMonica DanAlexandru DeaconuLucian DorobantuOana Gheorghe-FroneaMaria GreavuCorneliu IorgulescuAlexandru Scafa-UdristeRazvan TiculescuRadu Gabriel VatasescuMaria Dorobanțu

Published in: Diagnostics (Basel, Switzerland) (2020)

Herein we reported for the first time the rare variants identified in core and putative genes associated with HCM in a cohort of Romanian unrelated adult patients. The clinical significance of most detected variants is yet to be established, additional studies based on segregation analysis being required for definite classification.

Keyphrases

hypertrophic cardiomyopathy
copy number
left ventricular
machine learning
deep learning
genome wide
heart failure
dna methylation
gene expression
data analysis