title: The low-template-DNA (stochastic) threshold--its determination relative to risk analysis for national DNA databases.
abstract: Although the low-template or stochastic threshold is in widespread use and is typically set to 150-200 rfu peak height, there has been no consideration on its determination and meaning. In this paper we propose a definition that is based upon the specific risk of wrongful designation of a heterozygous genotype as a homozygote which could lead to a false exclusion. Conversely, it is possible that a homozygote {a,a} could be designated as {a,F} where 'F' is a 'wild card', and this could lead to increased risk of false inclusion. To determine these risk levels, we analysed an experimental dataset that exhibited extreme drop-out using logistic regression. The derived probabilities are employed in a graphical model to determine the relative risks of wrongful designations that may cause false inclusions and exclusions. The methods described in this paper provide a preliminary solution of risk evaluation for any DNA process that employs a stochastic threshold.
authors.affiliation: University of Strathclyde, Royal College, 204 George Street, Glasgow G1 1XW, UK. peter.gill@strath.ac.uk
authors.forename: Peter
authors.initials: P
authors.lastname: Gill
authors.forename: Roberto
authors.initials: R
authors.lastname: Puch-Solis
authors.forename: James
authors.initials: J
authors.lastname: Curran
mesh_terms: D030561:Databases, Nucleic Acid; D018628:Gene Dosage; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D016015:Logistic Models; D008954:Models, Biological; D008962:Models, Theoretical; D011336:Probability; D018570:Risk Assessment; D013269:Stochastic Processes; D013698:Templates, Genetic