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Review
. 2017 Jan 31;135(5):406-409.
doi: 10.1161/CIRCULATIONAHA.116.024258.

Next-Generation Sequencing in Cardiovascular Disease: Present Clinical Applications and the Horizon of Precision Medicine

Victoria N Parikh  1 , Euan A Ashley  2
Affiliations
Review

Next-Generation Sequencing in Cardiovascular Disease: Present Clinical Applications and the Horizon of Precision Medicine

Victoria N Parikh et al. Circulation. .
No abstract available

Keywords: genetic heart disease; genetic testing; genetics; human.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest Disclosures: E.A.A. is a co-founder of, and an advisor at, Personalis Inc.

Figures

Figure 1
Figure 1. Comparison of Traditional Sequencing and Next Generation Sequencing (NGS)
In traditional sequencing, DNA is replicated in the presence of fluorescently labeled bases, yielding differently sized strands with different terminal bases. These terminal bases are identified in order to assemble the entire sequence and compare it to the reference genome. In NGS, DNA is simultaneously sequenced into billions of overlapping short reads that are then assembled by alignment to the reference genome. Here, each diploid genome is represented by black and orange copies. Green sequence represents reference genome. Purple boxes illustrate heterozygous variants, the black box illustrates the problem of uneven coverage and the red box indicates the inability of short reads to accurately sequence large areas of repeated sequence.
See this image and copyright information in PMC

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