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Article

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

Statistical applications in genetics and molecular biology - 28 Apr 2018

Cosemans Nele, Claes Peter, Brison Nathalie, Vermeesch Joris Robert, Peeters Hilde

Abstract excerpt

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 (<100 kb) CNVs. Therefore, this study presents a simple statistical analysis to evaluate CNV calls from SNP arrays in order to...

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PMID: 29708886
DOI: 10.1515/sagmb-2017-0026

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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