Figure 1.
Schematic of hypothetical permutation and combination single-cell genotypes, VAFs, and associated clinical disease phenotypes in JAK2V617F+MPN.JAK2V617F can be present in a single cell as a single copy (heterozygote, blue circle) or as a double copy (homozygote, red circle) in a single-cell genome. In a single individual, multiple stem cell clones may have varied JAK2V617F genotypes, and a measured JAK2V617F may range from very low levels to 100% (center column). Clinical phenotypes associated with the JAK2V617F VAF are represented in the right column.

Schematic of hypothetical permutation and combination single-cell genotypes, VAFs, and associated clinical disease phenotypes in JAK2V617F+MPN.JAK2V617F can be present in a single cell as a single copy (heterozygote, blue circle) or as a double copy (homozygote, red circle) in a single-cell genome. In a single individual, multiple stem cell clones may have varied JAK2V617F genotypes, and a measured JAK2V617F may range from very low levels to 100% (center column). Clinical phenotypes associated with the JAK2V617F VAF are represented in the right column.

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