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BioinformaticsNucleic Acids Research
Peer-reviewed journal article

PaSD-qc: Quality control for single cell whole-genome sequencing data using power spectral density estimation

Maxwell A. ShermaniD, Alison R. BartoniD, Michael A. LodatoiD, Carl M. VitzthumiD, Michael E. CoulteriD, Christopher A. WalshiD, Peter J. ParkiD

Abstract

Single cell whole-genome sequencing (scWGS) is providing novel insights into the nature of genetic heterogeneity in normal and diseased cells. However, scWGS introduces DNA amplification-related biases that can confound downstream analysis. Here we present a statistical method, with an accompanying package PaSD-qc (Power Spectral Density-qc), that evaluates the quality of single cell libraries. It uses a modified power spectral density to assess amplification uniformity, amplicon size distribution, autocovariance, and inter-sample consistency as well as identifies aberrantly amplified chromosomes. We demonstrate the usefulness of this tool in evaluating scWGS protocols and in selecting high-quality libraries from low-coverage data for deep sequencing.

02 /Specification & Classification

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