PloPaBoFy
Plausibility of Pathogenicity Based on Frequency
This calculator uses the principle of Hardy-Weinberg equilibrium and the binomial distribution to determine the probability that a variant detected in a specified number of individuals in a population-based cohort could account for a specific percentage of cases or mutations for a genetic disease or phenotype. This third Express version allows users to select whether to employ the binomial distribution or the Poisson distribution.
| plopabofy_usage_notes.pdf |