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Updated: Apr 15, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Next-generation sequencing technology in the genetics of cardiovascular disease
1Institute of Clinical Physiology-CNR, Via Moruzzi 1, 56124, Pisa, Italy, vecoli@ifc.cnr.it.
Abstract:
In recent years, next-generation sequencing (NGS) technologies have revolutionized approaches to genetic studies, making whole-genome sequencing a possible way for obtaining global genomic information. At present, three most NGS platforms are used in genetics for clonally amplified templates. These technologies share general processing steps but differing in specific technical details that determine their limits or advantages. NGS has been recently shown to have great potential for identifying novel causative mutations in different disorders. It is expected that the NGS will be increasingly important in the study of inherited and complex traits such as cardiovascular diseases (CVDs). Indeed, the identification and characterization of genes that enhance prediction of CVDs risk remain an important challenge for improving prevention and treatment.
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