Rational Inferences about Departures from Hardy-Weinberg Equilibrium
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چکیده
منابع مشابه
Rational inferences about departures from Hardy-Weinberg equilibrium.
Previous studies have explored the use of departure from Hardy-Weinberg equilibrium (DHW) for fine mapping Mendelian disorders and for general fine mapping. Other studies have used Hardy-Weinberg tests for genotyping quality control. To enable investigators to make rational decisions about whether DHW is due to genotyping error or to underlying biology, we developed an analytic framework and so...
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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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Testing for Hardy-Weinberg equilibrium is ubiquitous and has traditionally been carried out via frequentist approaches. However, the discreteness of the sample space means that uniformity of p-values under the null cannot be assumed, with enumeration of all possible counts, conditional on the minor allele count, offering a computationally expensive way of p-value calibration. In addition, the i...
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It is well established that test statistics and P-values derived from discrete data, such as genetic markers, are also discrete. In most genetic applications, the null distribution for a discrete test statistic is approximated with a continuous distribution, but this approximation may not be reasonable. In some cases using the continuous approximation for the expected null distribution may caus...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2005
ISSN: 0002-9297
DOI: 10.1086/430507