Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine
- 797 Downloads
Next generation sequencing (NGS) is perhaps one of the most exciting advances in the field of life sciences 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 cardiomyopathies have been identified and cataloging mutations on phenotypic basis are underway and are expected to lead to new discoveries that may translate to novel diagnostic, 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 cardiomyopathies, 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.
KeywordsPhenotypic heterogeneity Pathogenicity Cardiomyopathies Next generation sequencing
Supported by Grants from the University Grants Commission (UGC) to V. R. Rao and Department of Biotechnology (DBT), Govt. of India to V. R. Rao, Sandeep Seth and S. K. Maulik is acknowledged.
- 43.Maron BJ, Towbin JA, Thiene G et al (2006) Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 113:1807–1816CrossRefPubMedGoogle Scholar
- 46.ARVD/C Genetic Variants Database. Accessed 6 March 2014Google Scholar
- 47.Human Genetic Mutation Database [HGMD]. Accessed June 2013.Google Scholar
- 49.Hollman A, Goodwin JF, Teare D, Renwick JW (1960) A family with obstructive cardiomyopathy (asymmetrical hypertrophy). Br Heart J 321:1372–1378Google Scholar