Figure 5.

LIRICAL Evaluation of Simulated Case with a Pathogenic FBN1 Variant

(A–E) Eight distinct diseases are associated with variants in FBN1. LIRICAL prioritizes each disease separately, and in this case correctly placed Marfan syndrome at rank #1. Three other FBN1-associated diseases were placed in ranks #2–#4 (A). Clinical and molecular data were simulated according to individual 1 in Cao et al.⁵¹ The HPO terms are shown in panel (B). The graphic shows LIRICAL’s summary table and three of the detailed LR plots for the candidates at ranks #1 (C), #3 (D), and #5 (E).