Penetrance rate estimation in autosomal dominant conditions

Penetrance rate estimation in autosomal dominant conditions

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.

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Bibliographic Details
Main Authors: Otto,Paulo A., Horimoto,Andréa R.V.R.
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Genética 2012
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400006
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spelling oai:scielo:S1415-475720120004000062013-01-02Penetrance rate estimation in autosomal dominant conditionsOtto,Paulo A.Horimoto,Andréa R.V.R. penetrance rate maximum likelihood method recurrence risks genetic counseling 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.info:eu-repo/semantics/openAccessSociedade Brasileira de GenéticaGenetics and Molecular Biology v.35 n.3 20122012-01-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400006en10.1590/S1415-47572012005000051
institution SCIELO
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country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author Otto,Paulo A.
Horimoto,Andréa R.V.R.
spellingShingle Otto,Paulo A.
Horimoto,Andréa R.V.R.
Penetrance rate estimation in autosomal dominant conditions
author_facet Otto,Paulo A.
Horimoto,Andréa R.V.R.
author_sort Otto,Paulo A.
title Penetrance rate estimation in autosomal dominant conditions
title_short Penetrance rate estimation in autosomal dominant conditions
title_full Penetrance rate estimation in autosomal dominant conditions
title_fullStr Penetrance rate estimation in autosomal dominant conditions
title_full_unstemmed Penetrance rate estimation in autosomal dominant conditions
title_sort penetrance rate estimation in autosomal dominant conditions
description 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.
publisher Sociedade Brasileira de Genética
publishDate 2012
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400006
work_keys_str_mv AT ottopauloa penetrancerateestimationinautosomaldominantconditions
AT horimotoandrearvr penetrancerateestimationinautosomaldominantconditions
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