PENCALC: a program for penetrance estimation in autosomal dominant diseases
Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
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Data(s) |
26/03/2012
26/03/2012
2010
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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 |
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 |