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Table 1 Expected distribution of the observation in different states

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

  Distribution
State 1 2 3
Diploid N(μ, σ 2) - -
Heterozygous deletion N(μ, σ 2) N(μ + deletion size, σ 2) -
Homozygous deletion - N(μ + deletion size, σ 2) -
Tandem duplication N(μ, σ 2) - N(X − μ − 2 read length, σ 2)
  1. In diploid and homozygous states, there is a unimodal distribution for the insertion sizes, while heterozygous deletion and tandem duplication states follow a bimodal insertion size distribution
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