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Article

Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array.

Genetic epidemiology - 1 Sept 2011

Cardin Niall, Holmes Chris, Donnelly Peter, Marchini Jonathan

Abstract excerpt

Accurate assignment of copy number at known copy number variant (CNV) loci is important for both increasing understanding of the structural evolution of genomes as well as for carrying out association studies of copy number with disease. As with calling SNP genotypes, the task can be framed as a clustering problem but for a number of reasons assigning copy number is much more challenging. CNV assays have lower...

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PMID: 21769931
DOI: 10.1002/gepi.20604
PMCID: PMC3159791

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