Calculating genetic risk figures using a programmable pocket calculator |
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Authors: | G. R. Stalder |
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Affiliation: | (1) University Children's Hospital, Römergasse 8, CH-4005 Basel, Switzerland |
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Abstract: | Summary In autosomal irregular dominant as well as in sex-linked recessive inheritance, heterozygosity probabilities for up to six or eight pedigree members with unknown genotype can easily be calculated using a programmable pocket calculator. The application of the underlying combinatorial programs is explained by means of two relevant examples. Genetic counsellors without a computer at hand are provided with a simple and accurate method for calculating genetic risk figures taking into account pedigree data, incidence and/or mutation rate, reproductive fitness, as well as penetrance or results of heterozygosity tests of the disease in question. |
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