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Copy‐Number Variants Detection by Low‐Pass Whole‐Genome Sequencing

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.