PENCALC: A program for penetrance estimation in autosomal dominant diseases.

Autor: Horimoto AR; Departamento de Genética e Biologia Evolutiva Instituto de Biociências, Universidade de São Paulo, São Paulo, SP Brazil., Onodera MT, Otto PA
Jazyk: angličtina
Zdroj: Genetics and molecular biology [Genet Mol Biol] 2010 Jul; Vol. 33 (3), pp. 455-9. Date of Electronic Publication: 2010 Sep 01.
DOI: 10.1590/S1415-47572010005000054
Abstrakt: 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.
Databáze: MEDLINE