Fig. 2: Exomiser analysis of 100kGP cases that were unsolved in Feb 2019 but subsequently diagnosed based on a new disease-gene discovery.
From: Efficient reinterpretation of rare disease cases using Exomiser
Precision (dark green bars) and recall (light green bars) are shown for each Exomiser database release when new candidates were selected for the 37 cases based on an increase in the human phenotype score of 0.2 and a variant score >0.8 and, for the final bars, when also restricting to those variants classified as pathogenic/likely pathogenic by Exomiser’s automated ACMG classifier. Each version of Exomiser (Y axis) shows increased precision and similar or better recall than previous versions. Figure generated using R/4.2.1.
