PENCALC: a program for penetrance estimation in autosomal dominant diseases

AUTOR(ES)

Horimoto, Andréa R.V. Russo, Onodera, Márcio T., Otto, Paulo A.

FONTE

Genetics and Molecular Biology

DATA DE PUBLICAÇÃO

25/06/2010

RESUMO

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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