4.7 Article

Multi-allelic exact tests for Hardy-Weinberg equilibrium that account for gender

Journal

MOLECULAR ECOLOGY RESOURCES
Volume 18, Issue 3, Pages 461-473

Publisher

WILEY
DOI: 10.1111/1755-0998.12748

Keywords

indel; microsatellite; permutation test; X chromosome

Funding

  1. Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR) of the Generalitat de Catalunya [2014SGR551]
  2. Spanish Ministry of Economy and Competitiveness [MTM2015-65016-C2-2-R]
  3. United States National Institutes of Health [R01 GM075091]

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Statistical tests for Hardy-Weinberg equilibrium are important elementary tools in genetic data analysis. X-chromosomal variants have long been tested by applying autosomal test procedures to females only, and gender is usually not considered when testing autosomal variants for equilibrium. Recently, we proposed specific X-chromosomal exact test procedures for bi-allelic variants that include the hemizygous males, as well as autosomal tests that consider gender. In this study, we present the extension of the previous work for variants with multiple alleles. A full enumeration algorithm is used for the exact calculations of tri-allelic variants. For variants with many alternate alleles, we use a permutation test. Some empirical examples with data from the 1,000 genomes project are discussed.

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