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Updated: May 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Introduction to next-generation nucleic acid sequencing in cardiovascular disease research
Lena Diaw1, Victoria Youngblood, James G Taylor
1Pulmonary and Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
Abstract:
The identification of new genomic paradigms in lipoprotein and cardiovascular diseases will be accelerated by the application of the recent technological advances in nucleic acid sequencing. Presently, large-scale genomics facilities are equipped to accomplish this objective with a combination of "next-generation" DNA sequencing chemistries, largely focused on assembling massively parallel sequence reads corresponding to complete genes, entire exomes, or whole genomes from populations of individuals. In the future, individual laboratories will also use this emerging technology for focused genomic studies with the use of a combination of next-generation sequencing and automated Sanger sequencing. In particular, -next-generation sequencing will play an increasingly important role when applied to chromatin -immunoprecipitation, RNA transcriptome analysis, and studies of human genetic variation and mutation in carefully phenotyped healthy and disease populations. In this chapter, a brief overview of recent technological advances in next-generation nucleic acid sequencing is presented, with emphasis on practical -application to clinical studies in cardiovascular diseases.
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