Article
CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders.
PloS one - 1 Jan 2020
Addepalli Aditya, Kalyani Sakhare, Singh Minali, Bandyopadhyay Debashree, Mohan K Naga
Abstract excerpt
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...
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