Skip to main content

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
  1. 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.