CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation

Figure 2

CAVaLRi implements novel extensions to the LR paradigm. LIRICAL first described a likelihood ratio model for prioritizing disease-causing genetic variants; however, some critical clinical components of the diagnostic process were not represented. Novel components incorporated into the extended framework are indicated in blue and include incrementing filtered phenotype sets, adding a mode of inheritance likelihood ratio (LR_seg) and rescaling the relative importance of each likelihood ratio component. CAVaLRi takes a list of HPO IDs (.csv format), a list of variants (.vcf format), and a pedigree file detailing familial relationships (.ped format).