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. 2022 Apr 14;43(7):950–962. doi: 10.1002/humu.24374

Figure 3.

Figure 3

Pathogenic/likely pathogenic heterozygous and carrier status variants at variant allele frequencies (VAFs) 40%−60% in cultured skin fibroblasts have a similar VAF in blood or bone marrow samples on a somatic NGS assay (OncoPlus) across subjects, genes, and disease status with exceptions. Black dashed line indicates heterozygous VAF cut‐off. Dark gray dashed line indicates VAF limit of detection for germline pipeline. Arrows indicate two samples with blood or bone marrow VAF < 40%.