Inherited cardiovascular diseases are highly heterogeneous conditions with multiple genetic
loci involved. The application of advanced molecular tools, such as Next Generation …

In the last few years, the advent of next generation sequencing (NGS) has revolutionized the
approach to genetic studies, making whole-genome sequencing a possible way of obtaining …

Abstract The Human Genome Project (HGP), as the primary sequencing of the human
genome, lasted more than one decade to be completed using the traditional Sanger's …

In recent years, hundreds of gene loci associated with multiple cardiovascular pathologies
and traits have been identified through high-throughput Next-Generation Sequencing (NGS) …

Importance of the field: For patients with congenital and inherited heart disorders, causative
mutations are often not identified owing to limitations of current screening techniques …

Next generation sequencing (NGS) is perhaps one of the most exciting advances in the field
of life sciences and biomedical research in the last decade. With the availability of massive …

The development of high-throughput technologies such as next-generation sequencing
(NGS) has allowed for thousands of DNA loci to be interrogated simultaneously in a fast and …

Advances in clinical genetic testing have led to increased insight into the human genome,
including how challenging it is to interpret rare genetic variation. In some cases, the ability to …

Background and objective Molecular diagnosis in inherited cardiac diseases is challenging
because of the significant genetic and clinical heterogeneity. We present a detailed …

Cardiomyopathies, arrhythmic syndromes, aortopathies, and other cardiovascular diseases
with Mendelian inheritance are relatively frequent conditions for which genetic testing is …