PENCALC: a program for penetrance estimation in autosomal dominant diseases
Genet. mol. biol
;
33(3): 455-459, 2010. ilus
Article
Dans Anglais
| LILACS
| ID: lil-555836
ABSTRACT
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 percent 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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Logiciel
/
Aberrations des chromosomes
/
Pénétrance
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Genet. mol. biol
Thème du journal:
Génétique
Année:
2010
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Universidade de São Paulo/BR
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