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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