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Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios

Cosemans Nele, Brison Nathalie, Vermeesch Joris Robert, Claes Peter and Peeters Hilde ()
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Vermeesch Joris Robert: Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium
Claes Peter: Medical Image Computing, ESAT/PSI, Department of Electrical Engineering, KU Leuven, Leuven, Belgium
Peeters Hilde: Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium

Statistical Applications in Genetics and Molecular Biology, 2018, vol. 17, issue 2, 11

Abstract: Arrays based on single nucleotide polymorphisms (SNPs) have been successful for the large scale discovery of copy number variants (CNVs). However, current CNV calling algorithms still have limitations in detecting CNVs with high specificity and sensitivity, especially in case of small (

Keywords: CNV call; copy number variant; local noise estimation; log R ratio; SNP array (search for similar items in EconPapers)
Date: 2018
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DOI: 10.1515/sagmb-2017-0026

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