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Summary: Copyright 2004 by the Genetics Society of America
DOI: 10.1534/genetics.104.031617
Testing for Hardy-Weinberg Equilibrium in Samples With Related Individuals
Catherine Bourgain,*,1
Mark Abney,
Daniel Schneider,
Carole Ober
and Mary Sara McPeek,
*INSERM U535, 94817 Villejuif Cedex, France and
Department of Human Genetics and
Department of Statistics,
University of Chicago, Chicago, Illinois 60637
Manuscript received May 28, 2004
Accepted for publication September 8, 2004
ABSTRACT
When the classical 2
goodness-of-fit test for Hardy-Weinberg (HW) equilibrium is used on samples with
related individuals, the type I error can be greatly inflated. In particular the test is inappropriate in
population isolates where the individuals are related through multiple lines of descent. In this article, we
propose a new test for HW (the QL-HW test) suitable for any sample with related individuals, including
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