Single-Cell CNV Profiling Performed With Digital Microfluidics Method

In the Proceedings of the National Academy of Sciences, investigators at Xiamen University, Chongqing Medical University, and other centers in China outline an automatic digital microfluidics-based method for profiling copy number variants (CNVs) in individual cells — an approach they applied to individual cells from cell line, amniotic fluid, and peripheral blood sample sources. The digital counting and microfluidics approach, known as dd-scCNV Seq, relies on a so-called "digital microfluidics for digital counting of single-cell copy number variation" library preparation procedure, the team notes, which involves direct fragmentation and amplification on a digital microfluidics chip containing an array of 48 electrodes. "Instead of relying on read depths, dd-scCNV Seq achieves digital counting of copy numbers due to single molecule amplification of these unique segments," the authors write, adding that dd-scCNV Seq "shortens the time from days to hour for generation of barcoded single-cell DNA libraries with a mean size suitable for [next-generation sequencing]."