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Updated: Apr 27, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data
Valentina Boeva1, Tatiana Popova2, Maxime Lienard3
1Inserm, U900, Bioinformatics, Biostatistics, Epidemiology and Computational Systems Biology of Cancer, Institut Curie, Centre de Recherche, 26 rue d'Ulm, Paris 75248, Mines ParisTech, Fontainebleau 77300, Inserm, U830, Genetics and Biology of Cancers, Paris 75248, France, Institut de Pathologie et de Génétique, Gosselies 6041, Belgium, Clinical Research Department, Department of Medical Oncology, Plateforme de Génomique, Département de recherche translationnelle, Centre de recherche, Next-generation sequencing platform, Institut Curie, CNRS, UMR144, Subcellular Structure and cellular Dynamics, Paris 75248, France and OncoDNA, Gosselies 6041, Belgium Inserm, U900, Bioinformatics, Biostatistics, Epidemiology and Computational Systems Biology of Cancer, Institut Curie, Centre de Recherche, 26 rue d'Ulm, Paris 75248, Mines ParisTech, Fontainebleau 77300, Inserm, U830, Genetics and Biology of Cancers, Paris 75248, France, Institut de Pathologie et de Génétique, Gosselies 6041, Belgium, Clinical Research Department, Department of Medical Oncology, Plateforme de Génomique, Département de recherche translationnelle, Centre de recherche, Next-generation sequencing platform, Institut Curie, CNRS, UMR144, Subcellular Structure and cellular Dynamics, Paris 75248, France and OncoDNA, Gosselies 6041, Belgium Inserm, U900, Bioinformatics, Biostatistics, Epidemiology and Computational Systems Biology of Cancer, Institut Curie, Centre de Recherche, 26 rue d'Ulm, Paris 75248, Mines ParisTech, Fontainebleau 77300, Inserm, U830, Genetics and Biology of Cancers, Paris 75248, France, Institut de Pathologie et de Génétique, Gosselies 6041, Belgium, Clinical Research Department, Department of Medical Oncology, Plateforme de Génomique, Département de recherche translationnelle, Centre de recherche, Next-generation sequencing platform, Institut Curie, CNRS, UMR144, Subcellular Structure and cellular Dynamics, Paris 75248, France and OncoDNA, Gosselies 6041, Belgium.
ONCOCNV is a new method for analyzing amplicon sequencing data to detect gene copy number changes. This approach eliminates the need for additional array comparative genomic hybridization or single nucleotide polymorphism array experiments in cancer treatment.
Area of Science:
- Oncology
- Genomics
- Bioinformatics
Background:
- Amplicon sequencing is cost-effective for detecting actionable mutations in oncology.
- However, amplicon sequencing distorts original DNA copy number information.
- Current clinical practice often requires supplementary array comparative genomic hybridization (aCGH) or single nucleotide polymorphism (SNP) arrays for accurate copy number status.
Purpose of the Study:
- To develop a method for detecting gene copy number aberrations solely from amplicon sequencing data.
- To eliminate the need for additional, costly array-based experiments in clinical oncology.
Main Methods:
- Introduced ONCOCNV, a novel method incorporating multifactor normalization and annotation.
- Validated ONCOCNV on datasets with varying amplicon densities.
Main Results:
- ONCOCNV accurately detects large copy number changes from amplicon sequencing data.
- The method achieves precision comparable to established aCGH techniques.
- ONCOCNV successfully identifies gene copy number aberrations.
Conclusions:
- ONCOCNV provides a reliable way to extract gene copy number information from amplicon sequencing.
- This method can replace the necessity of aCGH or SNP array experiments.
- ONCOCNV enhances the utility of amplicon sequencing in clinical oncology.
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