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• Katus, HA.
• Meder, B
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• Katus, HA.
• Meder, B

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Biology 2013, 2(1), 378-398; doi:10.3390/biology2010378

Review

Next-Generation Sequencing: From Understanding Biology to Personalized Medicine

Karen S. Frese ¹ , Hugo A. Katus ^1,2  and Benjamin Meder ^1,2,*

¹ Department of Internal Medicine III, University of Heidelberg, Heidelberg 69120, Germany ² DZHK (German Centre for Cardiovascular Research)—partner site, Heidelberg/Mannheim, Department of Internal Medicine III, University of Heidelberg, Im Neuenheimer Feld 350, Heidelberg 69120, Germany

* Author to whom correspondence should be addressed.

Received: 21 January 2013; in revised form: 21 January 2013 / Accepted: 4 February 2013 / Published: 1 March 2013

(This article belongs to the Special Issue Next Generation Sequencing Approaches in Biology)

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Abstract: Within just a few years, the new methods for high-throughput next-generation sequencing have generated completely novel insights into the heritability and pathophysiology of human disease. In this review, we wish to highlight the benefits of the current state-of-the-art sequencing technologies for genetic and epigenetic research. We illustrate how these technologies help to constantly improve our understanding of genetic mechanisms in biological systems and summarize the progress made so far. This can be exemplified by the case of heritable heart muscle diseases, so-called cardiomyopathies. Here, next-generation sequencing is able to identify novel disease genes, and first clinical applications demonstrate the successful translation of this technology into personalized patient care.

Keywords: next-generation sequencing; genomics; epigenomics; transcriptomics; cardiomyopathy; heart failure

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