Abstract
A set of formulas for the indices of the performance and predictive ability of the binary genetic tests is presented. Their dependence on disease prevalence and the population frequency of a genetic marker is characterized. It is shown that a marker with the odds ratio OR < 2.2 has an initially low prognostic efficiency in every sense and at any frequencies of the disease and the marker. A marker can be a good classifier, when OR > 5.4, but only in case its population frequency is rather high (p M > 0.3). The formulas are presented that allow obtaining indirect estimates of the absolute and relative risk of the disease for the carrier of a marker in the case-control studies.
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Original Russian Text © A.V. Rubanovich, N.N. Khromov-Borisov, 2013, published in Ekologicheskaya Genetika, 2013, Vol. 11, No. 1, pp. 77–90.
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Rubanovich, A.V., Khromov-Borisov, N.N. Theoretical analysis of the predictability indices of the binary genetic tests. Russ J Genet Appl Res 4, 146–158 (2014). https://doi.org/10.1134/S2079059714020087
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DOI: https://doi.org/10.1134/S2079059714020087