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Calculating genetic risk figures using a programmable pocket calculator.

作者信息

Stalder G R

出版信息

Hum Genet. 1979;52(3):337-41. doi: 10.1007/BF00278682.

Abstract

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.

摘要

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