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

Copy-Number Variants Detection by Low-Pass Whole-Genome Sequencing. Curr Protoc Hum Genet. 2017 Jul 11;94:8.17.1-8.17.16 Authors: Dong Z, Xie W, Chen H, Xu J, Wang H, Li Y, Wang J, Chen F, Choy KW, Jiang H 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. PMID: 28696555 [PubMed - in process]
Source: Current Protocols in Human Genetics - Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research