PENCALC: a program for penetrance estimation in autosomal dominant diseases

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

doi:10.1590/s1415-47572010005000054

Andréa R.V Russo Horimoto, Paulo A Otto + Show 1 more

Open Access

https://doi.org/10.1590/s1415-47572010005000054

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Journal: Genetics and Molecular Biology	Publication Date: Jan 1, 2010
Citations: 4	License type: cc-by

Affiliation: Universidade de São Paulo

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.

Highlights

Accurate penetrance estimates are important for determining genetic disease recurrence risks in families where incompletely penetrant Mendelian disorders are segregating or for establishing genetic map locations by linkage analysis
While crude penetrance estimates can be rapidly derived by dividing the number of observed individuals expressing a disease phenotype by a rough estimate of the probable number of carriers in a given pedigree exhibiting autosomal dominant inheritance, deriving exact maximum likelihood estimates of carrier status at an individual level is time consuming and tedious
We describe the structure and use of a computer program designed to be user friendly and assist genetic counselors and gene mappers to make accurate penetrance estimates in all sizes and complexities of autosomal dominant pedigrees, including those containing consanguineous loops and twin pairs

Summary

Introduction

Accurate penetrance estimates are important for determining genetic disease recurrence risks in families where incompletely penetrant Mendelian disorders are segregating or for establishing genetic map locations by linkage analysis. While crude penetrance estimates can be rapidly derived by dividing the number of observed individuals expressing a disease phenotype by a rough estimate of the probable number of carriers in a given pedigree exhibiting autosomal dominant inheritance, deriving exact maximum likelihood estimates of carrier status at an individual level is time consuming and tedious.

Results

Conclusion