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Article

Genome-wide algorithm for detecting CNV associations with diseases.

BMC bioinformatics - 9 Aug 2011

Xu Yaji, Peng Bo, Fu Yunxin, Amos Christopher I

Abstract excerpt

BACKGROUND: SNP genotyping arrays have been developed to characterize single-nucleotide polymorphisms (SNPs) and DNA copy number variations (CNVs). Nonparametric and model-based statistical algorithms have been developed to detect CNVs from SNP data using the marker intensities. However, these algorithms lack specificity to detect small CNVs owing to the high false positive rate when calling CNVs based on the...

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PMID: 21827692
DOI: 10.1186/1471-2105-12-331
PMCID: PMC3173460

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