Dong Zirui, Xie Weiwei, Chen Haixiao, Xu Jinjin, Wang Huilin, Li Yun, Wang Jun, Chen Fang, Choy Kwong Wai, Jiang Hui
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, China.
Curr Protoc Hum Genet. 2017 Jul 11;94:8.17.1-8.17.16. doi: 10.1002/cphg.43.
Emerging studies have demonstrated that whole-genome sequencing (WGS) is an efficient tool for copy-number variants (CNV) detection, particularly in probe-poor regions, as compared to chromosomal microarray analysis (CMA). However, the cost of testing is beyond economical for routine usage and the lengthy turn-around time is not ideal for clinical implementation. In addition, the demand for computational resources also reduces the probability of clinical integration into each laboratory. Herein, a protocol providing CNV detection from low-pass, whole-genome sequencing (0.25×) in a clinical laboratory setting is described. The cost is reduced to less than $200 USD per sample and the turn-around time is within an acceptable clinically workable time-frame (7 days). © 2017 by John Wiley & Sons, Inc.
新兴研究表明，与染色体微阵列分析（CMA）相比，全基因组测序（WGS）是检测拷贝数变异（CNV）的有效工具，尤其是在探针较少的区域。然而，检测成本过高，不适合常规使用，而且周转时间过长，不利于临床应用。此外，对计算资源的需求也降低了临床整合到每个实验室的可能性。本文描述了一种在临床实验室环境中通过低深度全基因组测序（0.25×）进行CNV检测的方案。成本降低至每个样本不到200美元，周转时间在可接受的临床可行时间范围内（7天）。© 2017约翰威立国际出版公司
