CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation

Figure 1

DDD CONSORT diagram. 13,642 cases from the DDD cohort were initially considered before narrowing the final case count to 12,832. 138 proband were removed due to expected data not being present (sample missing in VCF, no phenotypes listed, or diagnostic variant missing in VCF). 12 proband were removed due to low quality or high cohort frequency. 459 probands were removed due to lying outside of the scope of CAVaLRi detection (CNVs, nonexonic, and synonymous function, see Figure 3(b), Supplemental Table 1). 19 probands were removed due to disagreement between patient genotype and annotated mode of inheritance (heterozygous variants causing recessive conditions; Supplemental Table 2).