Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

Rita Mendes de AlmeidaJoana TavaresSandra MartinsTeresa CarvalhoFrancisco J EnguitaDulce BritoMaria Carmo-FonsecaLuis Rocha Lopes

Published in: PloS one (2017)

This study provides a framework for scrutinizing variation along the complete intronic sequence of HCM-associated genes and prioritizing candidates for mechanistic and functional analysis. Our data suggest that deep intronic variation contributes to HCM phenotype.

Keyphrases

hypertrophic cardiomyopathy
genome wide
left ventricular
copy number
genome wide identification
dna methylation
electronic health record
single cell
heart failure
big data
genome wide analysis
machine learning
gene expression
data analysis
amino acid