An Unconditional Exact Test for the Hardy-Weinberg Equilibrium Law: Sample-Space Ordering Using the Bayes Factor

Corresponding author: Martin R. Whittle, Genomic Engenharia Molecular Ltda, Rua Itapeva 500, cj 5AB, 01332-903 São Paulo, SP, Brazil., mwhittle{at}genomic.com.br (E-mail)

Communicating editor: G. A. CHURCHILL

Much forensic inference based upon DNA evidence is made assuming that the Hardy-Weinberg equilibrium (HWE) is valid for the genetic loci being used. Several statistical tests to detect and measure deviation from HWE have been devised, each having advantages and limitations. The limitations become more obvious when testing for deviation within multiallelic DNA loci is attempted. Here we present an exact test for HWE in the biallelic case, based on the ratio of weighted likelihoods under the null and alternative hypotheses, the Bayes factor. This test does not depend on asymptotic results and minimizes a linear combination of type I and type II errors. By ordering the sample space using the Bayes factor, we also define a significance (evidence) index, P value, using the weighted likelihood under the null hypothesis. We compare it to the conditional exact test for the case of sample size n = 10. Using the idea under the method of ² partition, the test is used sequentially to test equilibrium in the multiple allele case and then applied to two short tandem repeat loci, using a real Caucasian data bank, showing its usefulness.

This article has been cited by other articles:

				W. R. Engels Exact Tests for Hardy-Weinberg Proportions Genetics, December 1, 2009; 183(4): 1431 - 1441. [Abstract] [Full Text] [PDF]

				J. Attia, J. P. A. Ioannidis, A. Thakkinstian, M. McEvoy, R. J. Scott, C. Minelli, J. Thompson, C. Infante-Rivard, and G. Guyatt How to Use an Article About Genetic Association: B: Are the Results of the Study Valid? JAMA, January 14, 2009; 301(2): 191 - 197. [Abstract] [Full Text] [PDF]