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 |
ℒ | random length of an individual insert |
ℳ | random mean length of inserts spanning SV site |