Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine Amitabh Biswas • V. R. Rao • Sandeep Seth • S. K. Maulik Ó Springer Science+Business Media Dordrecht 2014 Abstract Next generation sequencing (NGS) is perhaps one of the most exciting advances in the field of life sci- ences and biomedical research in the last decade. With the availability of massive parallel sequencing, human DNA blueprint can be decoded to explore the hidden information with reduced time and cost. This technology has been used to understand the genetic aspects of various diseases including cardiomyopathies. Mutations for different car- diomyopathies have been identified and cataloging muta- tions on phenotypic basis are underway and are expected to lead to new discoveries that may translate to novel diag- nostic, prognostic and therapeutic targets. With ease in handling NGS, cost effectiveness and fast data output, NGS is now considered as a diagnostic tool for cardiomyopathy by providing targeted gene sequencing. In addition to the number of genetic variants that are identified in cardio- myopathies, there is a need of quicker and easy way to screen multiple genes associated with the disease. In this review, an attempt has been made to explain the NGS technology, methods and applications in cardiomyopathies and their perspective in clinical practice and challenges which are to be addressed. Keywords Phenotypic heterogeneity Á Pathogenicity Á Cardiomyopathies Á Next generation sequencing Introduction Genomics is now being understood to be the primary underlying cause of complex as well as Mendelian disor- ders. Therefore, genomic sequence information is likely to reveal other possible ways to comprehend disease mani- festation. This is in consonance with the paradigm shift in clinical practice from symptomatic treatment to under- standing causes of the disease. Till a few years ago, most of the mutations were identified using Sanger sequencing, but due to its limitations and demand for fast, more accurate and cost effective DNA sequencing, next generation sequencing (NGS) technologies were developed. After more than four decades of dependency on Sanger sequencing [1], NGS has made huge impact within 8 years by making massive parallel sequencing possible and thus generating large amount of data in a short time. However Sanger sequencing still continues to be the gold standard for validation in ‘clinical sequencing’ experiments. High throughput sequencing has transformed the area of molecular biology by detecting as many mutations as were earlier identified by Sanger sequencing to understand genetics and genome biology and other applied areas on genomic scale [2, 3]. With the advent of NGS, many strategies, applications and technological modifications were employed to answer the biological questions in terms of clinical diagnosis [4, 5]. These technological develop- ments in molecular biology and genetics are expected to provide personalized approach for the specific diagnosis for the disease [6]. In current scenario, its clinical uses are in prenatal testing for the detection of Beta thalassemia in Electronic supplementary material The online version of this article (doi:10.1007/s11033-014-3418-9) contains supplementary material, which is available to authorized users. A. Biswas Á V. R. Rao Department of Anthropology, University of Delhi, Delhi, India S. Seth Department of Cardiology, AIIMS, New Delhi, India S. K. Maulik (&) Department of Pharmacology, AIIMS, New Delhi, India e-mail: skmaulik@gmail.com 123 Mol Biol Rep DOI 10.1007/s11033-014-3418-9