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[Preprint]. 2024 Dec 5:2024.12.02.625685. [Version 1] doi: 10.1101/2024.12.02.625685

Figure 2 -.

Figure 2 -

Manually curated potential mosaic variants (135) depicted as vertical lines and arranged by increasing Strelka2 variant allele frequency (X-axis, left to right). Colored dots represent HG002 Illumina 300x (teal) and orthogonal tech datasets for each variant (BGI 100x - red, Element 136x - green, and PacBio HiFi 108x - purple) with corresponding bam-readcount VAFs located on the X-axis. Shaded area indicates the range of VAF (5% to 30%) of variants targeted for inclusion in the benchmark. The top facet illustrates 85 high-confidence SNVs included in the HG002 mosaic benchmark v1.0, while the bottom facet shows 50 SNVs excluded from the benchmark.