CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders.

ABSTRACT: Mutations conferring susceptibility to complex disorders also occur in healthy individuals but at significantly lower frequencies than in patients, indicating that these mutations are not completely penetrant. Therefore, it is important to estimate the penetrance or the likelihood of developing a disease in presence of a mutation. Recently, a method to calculate penetrance and its credible intervals was developed on the basis of the Bayesian method and since been used in literature. However, in the present form, this approach demands programming skills for its utility. Here, we developed 'CalPen', a web-based tool for straightforward calculation of penetrance and its credible intervals by entering the number of mutations identified in controls and patients, and the number of patients and c

SUBMITTER: Addepalli A 

PROVIDER: S-EPMC6988981 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature