Copy Number Variation Detection by Single-Cell DNA Sequencing with SCOPE.

Abstract

Whole-genome single-cell DNA sequencing (scDNA-seq) enables the characterization of copy number profiles at the cellular level. This circumvents the averaging effects associated with bulk-tissue sequencing and has increased resolution yet decreased ambiguity in deconvolving cancer subclones and elucidating cancer evolutionary history. ScDNA-seq data is, however, sparse, noisy, and highly variable even within a homogeneous cell population, due to the biases and artifacts that are introduced during the library preparation and sequencing procedure. Here, we describe SCOPE, a normalization and copy number estimation method for scDNA-seq data. We give an overview of the methodology and illustrate SCOPE with step-by-step demonstrations.