SciELO - Scientific Electronic Library Online

vol.33 issue3Molecular forms of butyrylcholinesterase and obesityCo-localization of GSTP1 and JNK in transitional cell carcinoma of urinary bladder author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Genetics and Molecular Biology

Print version ISSN 1415-4757


HORIMOTO, Andréa R.V. Russo; ONODERA, Márcio T.  and  OTTO, Paulo A.. PENCALC: a program for penetrance estimation in autosomal dominant diseases. Genet. Mol. Biol. [online]. 2010, vol.33, n.3, pp.455-459.  Epub June 25, 2010. ISSN 1415-4757.

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

Keywords : penetrance (rate, value); computer program; maximum likelihood estimation.

        · text in English     · English ( pdf epdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License