PENCALC: a program for penetrance estimation in autosomal dominant diseases


Autoria(s): HORIMOTO, Andréa R.V. Russo; ONODERA, Márcio T.; OTTO, Paulo A.
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

26/03/2012

26/03/2012

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.

Identificador

Genetics and Molecular Biology, v.33, n.3, p.455-459, 2010

1415-4757

http://producao.usp.br/handle/BDPI/11628

10.1590/S1415-47572010005000054

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012

http://www.scielo.br/pdf/gmb/v33n3/2010-060.pdf

Idioma(s)

eng

Publicador

Sociedade Brasileira de Genética

Relação

Genetics and Molecular Biology

Direitos

openAccess

Copyright Sociedade Brasileira de Genética

Palavras-Chave #Penetrance (rate, value) #Computer program #Maximum likelihood estimation
Tipo

article

original article

publishedVersion