全基因组测序
基因组
生物
计算生物学
拷贝数变化
DNA测序
遗传学
基因
人类基因组
计算机科学
作者
Zirui Dong,Wen Xie,Haixiao Chen,Jinjin Xu,Huilin Wang,Yun Li,Jun Wang,Fang Chen,Kwong Wai Choy,Hui Jiang
摘要
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.
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