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Fig. 3 | BMC Bioinformatics

Fig. 3

From: PSE-HMM: genome-wide CNV detection from NGS data using an HMM with Position-Specific Emission probabilities

Fig. 3

HMM structure, states and transition probabilities are shown. In diploid state each genomic segment has two copies. In heterozygous deletion and homozygous deletion each genomic segment appears in one and no copies, respectively. Duplication state models those genomic segments that have more than two copies in the sample genome, at least one of the tandem duplication type

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