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Revisiting the Neutral Dynamics Derived Limiting Guanine-Cytosine Content Using the Human De Novo Point Mutation Data

We revisit the topic of human genome guanine-cytosine content under neutral evolution. For this study, the de novo mutation data within human is used to estimate mutational rate instead of using base substitution data between related species. We then define a new measure of mutation bias which separate the de novo mutation counts from the background guanine-cytosine content itself, making comparison between different datasets easier. We derive a new formula for calculating limiting guanine-cytosine content by separating CpG-involved mutational events as an independent variable. Using the formula when CpG-involved mutations are considered, the guanine-cytosine content drops less severely in the limit of neutral dynamics. We provide evidence, under certain assumptions, that an isochore-like structure might remain as a limiting configuration of the neutral mutational dynamics.

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