Fig. 4: Odds of pathogenicity (OddsPath) based on the multinomial probability distribution of somatic DDX41 variants.
From: Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets
A Simulation of OddsPath based on the observed counts of single recurrent (R525H and non-R525H) somatic missense variants (n1), single non-recurrent somatic variants (n2), and multiple somatic hits (n3) among up to 25 evaluable cases (N) of germline DDX41 variants. B, C Contingency table and Sankey diagram comparing evidence strength levels between the original approach (modified from Maierhofer et al. [3] and OddsPath. In the Sankey diagram, 211 cases that do not meet both criteria are excluded.
