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[Preprint]. 2024 Oct 25:2024.10.22.619642. [Version 1] doi: 10.1101/2024.10.22.619642

Figure 3. Multi-sample SV genotyping performance.

Figure 3

Genotype concordance by number of neighbors for discovered SVs (a) and assembly-derived SVs from 47 samples (b). Genotype distribution for discovered (c) and assembly-derived SVs (d). For b & d, the x-axis has been truncated to 20%-100% for readability. For b, the baseline corresponds to the original sniffles discovery genotypes without full genotyping and all missing (‘./.’) genotypes assumed to be reference homozygous. REF = reference homozygous, HET = heterozygous, HOM = homozygous alternate, NON = Missing genotype (./.). Bar plot error bars represent 95% confidence intervals.