Exact(3)
The PennCNV algorithm allowed us to detect four abnormal copy number states other than the normal diploid state: deletion by one or two copies and duplication by one or two copies (Figure 1A).
Also, their Birdsuite recovery rate was inflated since no agreement on CNV state (deletion or duplication) was required by Korn et al. just after the development of Birdsuite; we found that only 70% of CNVs containing 20 or more markers were recovered by Birdsuite with an agreement on CNV state.
The non-diploid state deletion and amplification indicate either disease susceptibility or resistance; thus, copy number variation explains not only genetic variation but also certain types of diseases.
Similar(5)
Generally this question is formulated as a cluster problem, in which each of the gene locus in classified into one of the clusters B1, B2 and B3 represent the three states deletion, normal and amplification.
Next, a four component Gaussian mixture model (one component for each of the following copy number states: deletion, copy-neutral, 1 and 2 additional copies) was fitted to the smoothed copy number ratios with a constraint on the differences between the mixture means.
Previous reports do not list an integer copy number state, so it is possible that the reported deletions in these gene regions are one-copy-state deletions.
The core of HMM between beginning (B) and ending (E) states consists of the matching (M) states, insertion states (I), and deletion states (D).
Thus in a-CGH data analysis, often a three-state mixture model is used: deletion state, normal state and amplification state, and we arbitrarily lable them as state 1, 2 and 3. Genes with copy number deletion tend to have smaller log-ratio measurements, those with normal status tend to have moderate measurements, and those with amplification tend to have larger measurements.
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