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Updated: May 3, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
The limits of individual identification from sample allele frequencies: theory and statistical analysis
Peter M Visscher1, William G Hill
1Queensland Institute of Medical Research, Brisbane, Australia. peter.visscher@qimr.edu.au
Abstract:
It was shown recently using experimental data that it is possible under certain conditions to determine whether a person with known genotypes at a number of markers was part of a sample from which only allele frequencies are known. Using population genetic and statistical theory, we show that the power of such identification is, approximately, proportional to the number of independent SNPs divided by the size of the sample from which the allele frequencies are available. We quantify the limits of identification and propose likelihood and regression analysis methods for the analysis of data. We show that these methods have similar statistical properties and have more desirable properties, in terms of type-I error rate and statistical power, than test statistics suggested in the literature.
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