Molecular Biology Reports

, Volume 41, Issue 8, pp 4881–4888

Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine

Authors

  • Amitabh Biswas
    • Department of AnthropologyUniversity of Delhi
  • V. R. Rao
    • Department of AnthropologyUniversity of Delhi
  • Sandeep Seth
    • Department of CardiologyAIIMS
    • Department of PharmacologyAIIMS
Article

DOI: 10.1007/s11033-014-3418-9

Cite this article as:
Biswas, A., Rao, V.R., Seth, S. et al. Mol Biol Rep (2014) 41: 4881. doi:10.1007/s11033-014-3418-9

Abstract

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.

Keywords

Phenotypic heterogeneityPathogenicityCardiomyopathiesNext generation sequencing

Supplementary material

11033_2014_3418_MOESM1_ESM.doc (108 kb)
Supplementary material 1 (DOC 108 kb)

Copyright information

© Springer Science+Business Media Dordrecht 2014