PENCALC: a program for penetrance estimation in autosomal dominant diseases
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 (Pen...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2010-01-01
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| Series: | Genetics and Molecular Biology |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012 |
| _version_ | 1811271044889051136 |
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| author | Andréa R.V. Russo Horimoto Márcio T. Onodera Paulo A. Otto |
| author_facet | Andréa R.V. Russo Horimoto Márcio T. Onodera Paulo A. Otto |
| author_sort | Andréa R.V. Russo Horimoto |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-12T22:13:16Z |
| format | Article |
| id | doaj.art-9b165963c79645b98751788a8985f7ed |
| institution | Directory Open Access Journal |
| issn | 1415-4757 1678-4685 |
| language | English |
| last_indexed | 2024-04-12T22:13:16Z |
| publishDate | 2010-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-9b165963c79645b98751788a8985f7ed2022-12-22T03:14:39ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852010-01-01333455459PENCALC: a program for penetrance estimation in autosomal dominant diseasesAndréa R.V. Russo HorimotoMárcio T. OnoderaPaulo A. OttoWe 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012penetrance (rate, value)computer programmaximum likelihood estimation |
| spellingShingle | Andréa R.V. Russo Horimoto Márcio T. Onodera Paulo A. Otto PENCALC: a program for penetrance estimation in autosomal dominant diseases Genetics and Molecular Biology penetrance (rate, value) computer program maximum likelihood estimation |
| title | 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_short | PENCALC: a program for penetrance estimation in autosomal dominant diseases |
| title_sort | pencalc a program for penetrance estimation in autosomal dominant diseases |
| topic | penetrance (rate, value) computer program maximum likelihood estimation |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300012 |
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