Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing
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AbstractEmerging 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).
Acceptance Date31/03/2017
All Author(s) ListDong Zirui, Xie Weiwei, Chen Haixiao, Xu Jinjin, Wang Huilin, Li Yun, Wang Jun, Chen Fang, Choy Kwong Wai, Jiang Hui
Journal nameCurrent Protocols in Human Genetics
Book titleCurrent Protocols in Human Genetics
Year2017
Month7
Volume Number94
PublisherJohn Wiley & Sons, Inc.
Pages8.17.1 - 8.17.16
ISBN9780471142904
ISSN1934-8266
eISSN1934-8258
LanguagesEnglish-United States
Keywordscopy-number variants, low-pass whole-genome sequencing

Last updated on 2020-15-10 at 01:00