Simulation on AEV in absence of ASE. (A) Illustration of elevated AEV under the scenario that gene expression in the tumor is threefold of that in normal cells (e = 3) with the absence of NMD (d = 0). In tumor cells, three copies of the mutant and wild-type alleles are transcribed, whereas a single copy of the alleles is transcribed in normal cells. The VAFRNA, VAFDNA, and the ratio of VAFRNA to VAFDNA (AEV) projected from tumor purity at 1.0, 0.5, and 0.33 are presented below. (B) Simulation of the AEV model for heterozygous (blue) and homozygous (orange) mutation in a diploid region with varying degrees of tumor purity and NMD efficiencies. (C) Simulated VAFDNA versus VAFRNA under three expression difference scenarios for purity ranging from 0.1 to 1.0. The simulation is performed for NMD-insensitive, heterozygous mutation.
