title: Evaluating methods to correct for population stratification when estimating paternity indexes.
abstract: The statistical interpretation of the forensic genetic evidence requires the use of allelic frequency estimates in the reference population for the studied markers. Differences in the genetic make up of the populations can be reflected in statistically different allelic frequency distributions. One can easily figure out that collecting such information for any given population is not always possible. Therefore, alternative approaches are needed in these cases in order to compensate for the lack of information. A number of statistics have been proposed to control for population stratification in paternity testing and forensic casework, Fst correction being the only one recommended by the forensic community. In this study we aimed to evaluate the performance of Fst to correct for population stratification in forensics. By way of simulations, we first tested the dependence of Fst on the relative sizes of the sub-populations, and second, we measured the effect of the Fst corrections on the Paternity Index (PI) values compared to the ones obtained when using the local reference database. The results provide clear-cut evidence that (i) Fst values are strongly dependent on the sampling scheme, and therefore, for most situations it would be almost impossible to estimate real values of Fst; and (ii) Fst corrections might unfairly correct PI values for stratification, suggesting the use of local databases whenever possible to estimate the frequencies of genetic profiles and PI values.
authors.affiliation: Pricai-Fundación Favaloro, Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina. utoscanini@pricai.com.ar
authors.forename: Ulises
authors.initials: U
authors.lastname: Toscanini
authors.forename: Manuel
authors.initials: M
authors.lastname: Garcia-Magariños
authors.forename: Gabriela
authors.initials: G
authors.lastname: Berardi
authors.forename: Thore
authors.initials: T
authors.lastname: Egeland
authors.forename: Eduardo
authors.initials: E
authors.lastname: Raimondi
authors.forename: Antonio
authors.initials: A
authors.lastname: Salas
mesh_terms: D001118:Argentina; D016172:DNA Fingerprinting; D053803:Forensic Genetics / Q000379:methods* / Q000592:standards; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010334:Paternity; D010375:Pedigree