Chunk #8 — MATERIALS AND METHODS — Statistical model — QuantiSNP: an Objective Bayes Hidden-Markov Model

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

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QuantiSNP uses an OB-HMM to infer copy number variation and in the model the hidden states denote the (unknown) copy number at each SNP. The states are inferred using BeadArray™ genotyping data—in terms of log R ratios and B allele frequencies—for each SNP (Figure 1).