Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine

作者：Biswas Amitabh; Rao V R; Seth Sandeep; Maulik S K^*

来源：Molecular Biology Reports, 2014, 41(8): 4881-4888.

DOI：10.1007/s11033-014-3418-9

• Phenotypic heterogeneity
• Pathogenicity
• Cardiomyopathies
• Next generation sequencing

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.

• 出版日期2014-8