Data/hora: 11/06/2024 09:12:20

Provedor de dados: | 74
País: | Brazil
Título: | PENCALC: a program for penetrance estimation in autosomal dominant diseases
Autores: | Horimoto,Andréa R.V. Russo; Onodera,Márcio T.; Otto,Paulo A.
Data: | 2010-01-01
Ano: | 2010
Palavras-chave: | Penetrance (rate; Value) computer program maximum likelihood estimation.
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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572010005000054
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.33 n.3 2010
Fonte: | info:eu-repo/semantics/openAccess