A global test for Hardy-Weinberg equilibrium

• Autores: Juan José Egozcue Rubí, Jan Graffelman, Jair Morales, Vera Pawlowsky Glahn
• Localización: XXXI Congreso Nacional de Estadística e Investigación Operativa ; V Jornadas de Estadística Pública: Murcia, 10-13 de febrero de 2009 : Libro de Actas, 2009, ISBN 978-84-691-8159-1
• Idioma: inglés
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• Resumen

  • In many genetical association studies individuals are typed with respect to a large number of genetical markers known as single nucleotide polymorphisms (SNPs). Misclassi cation of individuals can occur due to errors in the genotyping process. Recently, statistical tests for Hardy-Weinberg equilibrium (HWE) have received renewed attention, because they help to detect genotyping error. Markers that deviate signi cantly from HWE often have a large amount of genotyping error. For this reason, all SNPs are typically tested for HWE by a chi-square or Fisher exact test. This leads to a large number of statistical tests.

    A single global test for the joint equilibrium of all markers is possible when each marker is interpreted as a genetical composition. The global test is based on logratio transformed compositions. Under the assumption of HWE, theoretical properties of the transformed data can be derived that can be tested by both parametric and nonparametric methods.