Biswas Amitabh, Rao V R, Seth Sandeep, Maulik S K
Department of Anthropology, University of Delhi, Delhi, India.
Mol Biol Rep. 2014 Aug;41(8):4881-8. doi: 10.1007/s11033-014-3418-9.
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.
下一代测序（NGS）可能是过去十年生命科学和生物医学研究领域最令人兴奋的进展之一。随着大规模平行测序技术的出现，人类DNA蓝图得以解码，从而能够以更低的时间和成本探索隐藏信息。这项技术已被用于了解包括心肌病在内的各种疾病的遗传方面。不同心肌病的突变已被识别，基于表型对突变进行编目正在进行中，预计将带来新的发现，这些发现可能转化为新的诊断、预后和治疗靶点。由于NGS操作简便、成本效益高且数据输出快，通过提供靶向基因测序，NGS现在被视为心肌病的一种诊断工具。除了在心肌病中鉴定出的基因变异数量外，还需要一种更快、更简便的方法来筛选与该疾病相关的多个基因。在这篇综述中，我们试图解释NGS技术、方法及其在心肌病中的应用，以及它们在临床实践中的前景和有待解决的挑战。
