CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation

Figure 6

CAVaLRi’s diagnostic prioritization accuracy is highly dependent on available parental data. Differences in prioritization accuracy were explored between cases where ES was available for both parents (trio), only one parent (duo), or neither parent (singleton). The availability of parental data improved CAVaLRi performance in the clinical ES test partition when parental data, with trio cases outperforming duo cases, and duo cases outperforming singleton cases, as assessed by (a) PR AUC and (b) top-N curves. The same pattern was observed in the DDD validation cohort as assessed by (c) PR AUC and (d) top-N curves.