Approximate and exact tests of Hardy-Weinberg equilibrium using uncertain genotypes

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A note on exact tests of Hardy-Weinberg equilibrium.

Deviations from Hardy-Weinberg equilibrium (HWE) can indicate inbreeding, population stratification, and even problems in genotyping. In samples of affected individuals, these deviations can also provide evidence for association. Tests of HWE are commonly performed using a simple chi2 goodness-of-fit test. We show that this chi2 test can have inflated type I error rates, even in relatively larg...

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Exact tests for Hardy-Weinberg proportions.

Exact conditional tests are often required to evaluate statistically whether a sample of diploids comes from a population with Hardy-Weinberg proportions or to confirm the accuracy of genotype assignments. This requirement is especially common when the sample includes multiple alleles and sparse data, thus rendering asymptotic methods, such as the common chi(2)-test, unreliable. Such an exact t...

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The mid p-value in exact tests for Hardy-Weinberg equilibrium.

OBJECTIVE Exact tests for Hardy-Weinberg equilibrium are widely used in genetic association studies. We evaluate the mid p-value, unknown in the genetics literature, as an alternative for the standard p-value in the exact test. METHOD The type 1 error rate and the power of the exact test are calculated for different sample sizes, significance levels, minor allele counts and degrees of deviati...

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Hardy-Weinberg equilibrium (HWE) holds when, in a closed population with random mating and without mutation and natural selection, genotype frequencies at any locus is a simple function of allele frequencies. Testing for HWE is now a common practice in population genetics and genetic association studies of non-communicable diseases; however, it is less-regarded, or sometimes miss-interpreted, i...

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ژورنال

عنوان ژورنال: Genetic Epidemiology

سال: 2011

ISSN: 0741-0395

DOI: 10.1002/gepi.20612