Zirui Dong, Weiwei Xie, Haixiao Chen, Jinjin Xu, Huilin Wang, Yun Li, Jun Wang, Fang Chen, Kwong Wai Choy, Hui Jiang
{"title":"Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing","authors":"Zirui Dong, Weiwei Xie, Haixiao Chen, Jinjin Xu, Huilin Wang, Yun Li, Jun Wang, Fang Chen, Kwong Wai Choy, Hui Jiang","doi":"10.1002/cphg.43","DOIUrl":null,"url":null,"abstract":"<p>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.</p>","PeriodicalId":40007,"journal":{"name":"Current Protocols in Human Genetics","volume":"94 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2017-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/cphg.43","citationCount":"23","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Protocols in Human Genetics","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/cphg.43","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 23
Abstract
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.
低通全基因组测序的拷贝数变异检测
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)是一种有效的拷贝数变异(CNV)检测工具，特别是在探针贫乏的区域。然而，检测的成本超出了常规使用的经济范围，并且漫长的周转时间不适合临床实施。此外，对计算资源的需求也降低了临床整合到各个实验室的概率。本文描述了一种在临床实验室环境中提供低通全基因组测序(0.25×) CNV检测的方案。每个样品的成本降至200美元以下，周转时间在临床可接受的可行时间范围内(7天)。©2017 by John Wiley &儿子,Inc。
本文章由计算机程序翻译，如有差异，请以英文原文为准。
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
