Article
PlatinumCNV: a Bayesian Gaussian mixture model for genotyping copy number polymorphisms using SNP array signal intensity data.
Genetic epidemiology - 1 Dec 2011
Kumasaka Natsuhiko, Fujisawa Hironori, Hosono Naoya, Okada Yukinori, Takahashi Atsushi, Nakamura Yusuke, Kubo Michiaki, Kamatani Naoyuki
Abstract excerpt
We present a statistical model for allele-specific patterns of copy number polymorphisms (CNPs) in commercial single nucleotide polymorphism (SNP) array data. This model is based on the observation that fluorescent signal intensities tend to cluster into clouds of similar allele-specific copy number (ASCN) genotypes at each SNP locus. To capture the tendency of this clustering to be made vague by instrumental...
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