PENCALC: A program for penetrance estimation in autosomal dominant diseases.
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ABSTRACT:
SUBMITTER: Horimoto AR
PROVIDER: S-EPMC3036116 | biostudies-other | 2010 Jul
REPOSITORIES: biostudies-other
Publications
PENCALC: A program for penetrance estimation in autosomal dominant diseases.
Horimoto Andréa R V Russo AR Onodera Márcio T MT Otto Paulo A PA
Genetics and molecular biology 20100701 3
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 ...[more]
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