Additional file 1 of Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis

Additional file 1: Supplementary tables. Table S1 Variant and case-level summary across the cohort. Table S2 All variants classified by ACMG criteria. Table S3 Prospective and retrospective diagnostic yield. Table S4a + b Genome unique variants and scientific de novo findings. Table S5 Secondary findings based on ACMG SF v3.2 list. Table S6 Variants with ACMG classification that can be directly affected by their access to inheritance information. Table S7 P/LP variants missed in the prospective analysis by each team and corresponding reasons.