PENCALC: a program for penetrance estimation in autosomal dominant diseases

Detalhes bibliográficos
Autor(a) principal: Horimoto,Andréa R.V. Russo
Data de Publicação: 2010
Outros Autores: Onodera,Márcio T., Otto,Paulo A.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012
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.
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spelling PENCALC: a program for penetrance estimation in autosomal dominant diseasespenetrance (rate, value)computer programmaximum likelihood estimationWe 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.Sociedade Brasileira de Genética2010-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012Genetics and Molecular Biology v.33 n.3 2010reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572010005000054info:eu-repo/semantics/openAccessHorimoto,Andréa R.V. RussoOnodera,Márcio T.Otto,Paulo A.eng2010-08-18T00:00:00Zoai:scielo:S1415-47572010000300012Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2010-08-18T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv PENCALC: a program for penetrance estimation in autosomal dominant diseases
title PENCALC: a program for penetrance estimation in autosomal dominant diseases
spellingShingle PENCALC: a program for penetrance estimation in autosomal dominant diseases
Horimoto,Andréa R.V. Russo
penetrance (rate, value)
computer program
maximum likelihood estimation
title_short PENCALC: a program for penetrance estimation in autosomal dominant diseases
title_full PENCALC: a program for penetrance estimation in autosomal dominant diseases
title_fullStr PENCALC: a program for penetrance estimation in autosomal dominant diseases
title_full_unstemmed PENCALC: a program for penetrance estimation in autosomal dominant diseases
title_sort PENCALC: a program for penetrance estimation in autosomal dominant diseases
author Horimoto,Andréa R.V. Russo
author_facet Horimoto,Andréa R.V. Russo
Onodera,Márcio T.
Otto,Paulo A.
author_role author
author2 Onodera,Márcio T.
Otto,Paulo A.
author2_role author
author
dc.contributor.author.fl_str_mv Horimoto,Andréa R.V. Russo
Onodera,Márcio T.
Otto,Paulo A.
dc.subject.por.fl_str_mv penetrance (rate, value)
computer program
maximum likelihood estimation
topic penetrance (rate, value)
computer program
maximum likelihood estimation
description 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.
publishDate 2010
dc.date.none.fl_str_mv 2010-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572010005000054
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.33 n.3 2010
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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