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Updated: Jan 18, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
SynthEx: a synthetic-normal-based DNA sequencing tool for copy number alteration detection and tumor heterogeneity
Grace O Silva1,2,3, Marni B Siegel1,3, Lisle E Mose3
1Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Abstract:
Changes in the quantity of genetic material, known as somatic copy number alterations (CNAs), can drive tumorigenesis. Many methods exist for assessing CNAs using microarrays, but considerable technical issues limit current CNA calling based upon DNA sequencing. We present SynthEx, a novel tool for detecting CNAs from whole exome and genome sequencing. SynthEx utilizes a "synthetic-normal" strategy to overcome technical and financial issues. In terms of accuracy and precision, SynthEx is highly comparable to array-based methods and outperforms sequencing-based CNA detection tools. SynthEx robustly identifies CNAs using sequencing data without the additional costs associated with matched normal specimens.
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