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

Figure 4.

Figure 4.

Mosaic variants change VAF between batches of DNA. HG002 mosaic benchmark variant allele fractions (VAFs) for NIST reference material (RM) 8391 and different batches of non-RM DNA (Coriell, NA24385) for two orthogonal technologies (Element and PacBio Revio). Higher VAFs were observed in direct VAF comparisons between materials compared to GIAB reference material. Coverage: Element RM: 136x, non-RM: 100x; PacBio Revio RM: 48x, non-RM: 120x.