title: Genuine Bayesian multiallelic significance test for the Hardy-Weinberg equilibrium law.
abstract: Statistical tests that detect and measure deviation from the Hardy-Weinberg equilibrium (HWE) have been devised but are limited when testing for deviation at multiallelic DNA loci is attempted. Here we present the full Bayesian significance test (FBST) for the HWE. This test depends neither on asymptotic results nor on the number of possible alleles for the particular locus being evaluated. The FBST is based on the computation of an evidence index in favor of the HWE hypothesis. A great deal of forensic inference based on DNA evidence assumes that the HWE is valid for the genetic loci being used. We applied the FBST to genotypes obtained at several multiallelic short tandem repeat loci during routine parentage testing; the locus Penta E exemplifies those clearly in HWE while others such as D10S1214 and D19S253 do not appear to show this.
authors.affiliation: IME - Instituto de Matemática e Estatística & BioInfo - Núcleo de Bioinformática, Universidade de São Paulo, São Paulo, SP, Brasil. cpereira@ime.usp.br
authors.forename: C A B
authors.initials: CA
authors.lastname: Pereira
authors.forename: F
authors.initials: F
authors.lastname: Nakano
authors.forename: J M
authors.initials: JM
authors.lastname: Stern
authors.forename: M R
authors.initials: MR
authors.lastname: Whittle
mesh_terms: D000483:Alleles; D001499:Bayes Theorem; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008957:Models, Genetic; D011110:Polymorphism, Genetic / Q000235:genetics*