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

Curr Protoc Hum Genet. 2017 Jul 11;94:8.17.1-8.17.16. doi: 10.1002/cphg.43.


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.

Keywords: copy-number variants; low-pass whole-genome sequencing.

MeSH terms

  • DNA Copy Number Variations / genetics*
  • Humans
  • Microarray Analysis
  • Time Factors
  • Whole Genome Sequencing / economics
  • Whole Genome Sequencing / methods*