Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing
Publication in refereed journal

香港中文大學研究人員
替代計量分析
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其它資訊
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).
出版社接受日期31.03.2017
著者Dong Zirui, Xie Weiwei, Chen Haixiao, Xu Jinjin, Wang Huilin, Li Yun, Wang Jun, Chen Fang, Choy Kwong Wai, Jiang Hui
期刊名稱Current Protocols in Human Genetics
書名Current Protocols in Human Genetics
出版年份2017
月份7
卷號94
出版社John Wiley & Sons, Inc.
頁次8.17.1 - 8.17.16
國際標準書號9780471142904
國際標準期刊號1934-8266
電子國際標準期刊號1934-8258
語言美式英語
關鍵詞copy-number variants, low-pass whole-genome sequencing

上次更新時間 2021-15-01 於 00:16