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Table 1 Notation for Structural Variation (SV) statistics

From: Statistical aspects of discerning indel-type structural variation via DNA sequence alignment

Variable

Meaning

Probabilistic Descriptors of SV Detection

 

α

probability of false-positive errors

β

probability of false-negative errors

Genomic and Project Parameters

 

λ

average insert length in a Gaussian library

σ

standard deviation in a Gaussian library

δ

length of an instance of structural variation

r

(constant) sequencing read length

τ

difference threshold specified for power analysis

N

number of inserts processed

G

haploid subject genome length

m

minimum admissible insert size (Eq. 5)

ρ

haploid physical coverage (≡ N λ/G)

Labels Defining Types of SV

 

ISV

insertion SV

DSV

deletion SV

H t

heterozygous SV

H m

homozygous SV

Functions and Random Variables

 

erf

Gaussian error function (see e.g. Ref. [28])

exp

exponential function

random number of inserts spanning an SV site

random length of an individual insert

random mean length of inserts spanning SV site