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Genetics and Molecular Biology

versão impressa ISSN 1415-4757

Resumo

HORIMOTO, Andréa R.V. Russo; ONODERA, Márcio T.  e  OTTO, Paulo A.. PENCALC: a program for penetrance estimation in autosomal dominant diseases. Genet. Mol. Biol. [online]. 2010, vol.33, n.3, pp. 455-459.  Epub 25-Jun-2010. ISSN 1415-4757.  http://dx.doi.org/10.1590/S1415-47572010005000054.

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.

Palavras-chave : penetrance (rate, value); computer program; maximum likelihood estimation.

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