PENCALC: A program for penetrance estimation in autosomal dominant diseases |
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| Authors: | Horimoto Andréa R V Russo Onodera Márcio T Otto Paulo A |
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| Institution: | Departamento de Genética e Biologia Evolutiva Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil |
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| Abstract: | We present a computer program developed for estimating penetrance rates in autosomal dominant diseases by means of family kinship and phenotype information contained within the pedigrees. The program also determines the exact 95% credibility interval for the penetrance estimate. Both executable (PenCalc for Windows) and web versions (PenCalcWeb) of the software are available. The web version enables further calculations, such as heterozygosity probabilities and assessment of offspring risks for all individuals in the pedigrees. Both programs can be accessed and down-loaded freely at the home-page address http://www.ib.usp.br/~otto/software.htm. |
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| Keywords: | penetrance (rate value) computer program maximum likelihood estimation |
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