PENCALC: a program for penetrance estimation in autosomal dominant diseases
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , |
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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Genetics and Molecular Biology |
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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 |
format |
article |
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 |
_version_ |
1752122383273033728 |