Clinical integration of next-generation sequencing technology.
Clinical integration of next-generation sequencing technology.
复制标题
DOI：
10.1016/j.cll.2012.07.005
复制
发表时间：
2012-12
影响因子：
1.7
通讯作者：
LaFramboise WA
中科院分区：
文献类型：
--
作者：
Gullapalli RR;Lyons-Weiler M;Petrosko P;Dhir R;Becich MJ;LaFramboise WA
下一代测序(NGS)方法的最新技术进步大大降低了成本和操作复杂性，导致台式测序仪和商业软件解决方案的生产，以便在小型研究和临床实验室中实施。本章总结了成功实施这些系统的要求和障碍，包括1)仪器、实验范例和初级读数的校准、验证和优化，2)数据的安全传输、存储和二次处理，3)靶向分析软件工具的实施，以及4)培训研究和临床人员以评估数据保真度和解释基因组输出的分子意义。鉴于将NGS技术引入临床领域的商业和技术推动力，新的测试必须将严格的协议与内置的校准标准相结合，并且数据传输和处理必须在严格的安全措施下进行，以便由经过分子诊断学专业培训的临床医生进行解释。
Recent technological advances in Next Generation Sequencing (NGS) methods have substantially reduced cost and operational complexity leading to the production of bench top sequencers and commercial software solutions for implementation in small research and clinical laboratories. This chapter summarizes requirements and hurdles to the successful implementation of these systems including 1) calibration, validation and optimization of the instrumentation, experimental paradigm and primary readout, 2) secure transfer, storage and secondary processing of the data, 3) implementation of software tools for targeted analysis, and 4) training of research and clinical personnel to evaluate data fidelity and interpret the molecular significance of the genomic output. In light of the commercial and technological impetus to bring NGS technology into the clinical domain, it is critical that novel tests incorporate rigid protocols with built-in calibration standards and that data transfer and processing occur under exacting security measures for interpretation by clinicians with specialized training in molecular diagnostics.
登录
查看更多内容
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
7
作者：
Chaisson, Mark J.;Pevzner, Pavel A.
通讯作者：
Pevzner, Pavel A.
影响因子：
5.8
作者：
Kelly, Catherine M.;Bernard, Philip S.;Pusztai, Lajos
通讯作者：
Pusztai, Lajos
影响因子：
6.8
作者：
Gulcher, J;Stefansson, K
通讯作者：
Stefansson, K