PENCALC: a program for penetrance estimation in autosomal dominant diseases
| العنوان: | PENCALC: a program for penetrance estimation in autosomal dominant diseases |
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| المؤلفون: | Andrea R. V. R. Horimoto, Paulo Alberto Otto, Márcio T. Onodera |
| المصدر: | Genetics and Molecular Biology, Volume: 33, Issue: 3, Pages: 455-459, Published: 25 JUN 2010 Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP Genetics and Molecular Biology Genetics and Molecular Biology v.33 n.3 2010 Sociedade Brasileira de Genética (SBG) instacron:SBG Genetics and Molecular Biology, Vol 33, Iss 3, Pp 455-459 (2010) |
| بيانات النشر: | FapUNIFESP (SciELO), 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | Estimation, Genetics, lcsh:QH426-470, Short Communication, Maximum likelihood, maximum likelihood estimation, Pedigree chart, computer.file_format, Biology, Penetrance, lcsh:Genetics, penetrance (rate, value), computer program, Human and Medical Genetics, Credible interval, Executable, penetrance (rate, PROGRAMAÇÃO GENÉTICA, value), Molecular Biology, computer |
| الوصف: | 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.htmTest. |
| وصف الملف: | text/html |
| تدمد: | 1678-4685 1415-4757 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef2e87b7146b5118d4fde0d7421feaeTest https://doi.org/10.1590/s1415-47572010005000054Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2ef2e87b7146b5118d4fde0d7421feae |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16784685 14154757 |
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