Figure S7.

SV phasing and imputation performance, related to Figure 6

(A) Distribution of sample-level fractions of HET SVs (DELs and INSs) that were assessed for phasing accuracy against the HGSVC truth set in Figure 6B. (B) Distribution of sample-level fractions of HET SVs (DELs, INSs, DUPs, INVs) that were assessed for phasing accuracy using parental flip rate as shown in Figure 6C. (C) Fraction of SV sites (DELs and INSs; out of all DELs and INSs included in the high-coverage panel) that was included in the imputation performance evaluation against the HGSVC truth set shown in Figure 6D. (D) Upset plot showing site-level overlap of DELs and INSs discovered in the high-coverage 1kGP call set with those discovered in the long-read-based HGSVC call set used as the truth set. Overlap criteria: breakpoint position within +/−50 bp from the start site in the 1kGP call set and 80% length overlap. SV types: DEL: deletions, INS: insertions, DUP: duplications, INV: inversions