Welcome to shinyseg

shinyseg is an interactive web application for clinical cosegregation analysis, a method used to ascertain disease-associated genetic variants from family data. More specifically, it calculates the full-likelihood Bayes factor (FLB) for a variant’s pathogenicity (Thompson et al., 2003), which can be readily used within the ACMG-AMP framework for clinical variant interpretation (Richards et al., 2015; Jarvik and Browning, 2016).

shinyseg is powered by the ped suite, Shiny, and rhandsontable.