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A systematic benchmark of copy number variation detection tools for high density SNP genotyping arrays.

Genomics - 1 Nov 2024

van Baardwijk M N, Heijnen L S E M, Zhao H, Baudis M, Stubbs A P

Abstract excerpt

Copy Number Variations (CNVs) are crucial in various diseases, especially cancer, but detecting them accurately from SNP genotyping arrays remains challenging. Therefore, this study benchmarked five CNV detection tools-PennCNV, QuantiSNP, iPattern, EnsembleCNV, and R-GADA-using SNP array and WGS data from 2002 individuals of the DRAGEN re-analysis of the 1000 Genomes project. Results showed significant...

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PMID: 39547585
DOI: 10.1016/j.ygeno.2024.110962

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