Data/hora: 09/06/2024 14:51:51

Provedor de dados: 	74	
País: 	Brazil	
Título: 	Penetrance rate estimation in autosomal dominant conditions	
Autores: 	Otto,Paulo A.; Horimoto,Andréa R.V.R.	
Data: 	2012-01-01	
Ano: 	2012	
Palavras-chave: 	Penetrance rate; Maximum likelihood method; Recurrence risks; Genetic counseling.	
Resumo: 	Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance rate K (brief review of the method); 2) construction of exact credible intervals for K estimates; 3) specificity and heterogeneity issues; 4) penetrance rate estimates obtained through molecular testing of families; 5) lack of information about the phenotype of the pedigree generator; 6) genealogies containing grouped parent-offspring information; 7) ascertainment issues responsible for the inflation of K estimates.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400006	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572012005000051	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.35 n.3 2012	
Fonte: 	info:eu-repo/semantics/openAccess