DNA copy number profiling using single-cell sequencing

Abstract

Currently, there is a lack of software for detecting copy number variations and constructing copy number profile for the whole genome from single-cell DNA sequencing data, which are often of low coverage and high technical noises. Here we introduce a new toolkit, SCNV, which features an efficient bin-free segmentation approach and provides the highest resolution possible for breakpoint detection and the subsequent copy number calling. SCNV can auto-tune parameters based on a set of normal cells from the same batch to adjust for the technical noise level of the data, facilitating its application to data gathered from different platforms and different studies.