Table 1 Variables in a Multi-Genome Variant Detection Project
From: The theory of discovering rare variants via DNA sequencing
variable† | meaning |
|---|---|
P v | probability of finding a rare variant |
P v, min | minimum acceptable value of P v for a project |
ρ | haploid per-sample sequence redundancy |
R | total, project-wide redundancy |
ϕ | frequency of variant in population |
σ | number of samples sequenced in project |
τ | minimum read coverings for detection |
N | minimum variant observations to declare discovery |
- †Some variables are modified with a "star" superscript to denote optima, for example σ* is the optimum sample size for a project, ρ* the optimum per-sample redundancy, and
the discovery probability under optimal conditions.
the discovery probability under optimal conditions.