Simultaneous inference of selection and population growth from patterns of variation in the human genome

摘要: Natural selection and demographic forces can have similar effects on patterns of DNA polymorphism. Therefore, to infer from samples sequences, one must simultaneously account for effects. Here we take a model-based approach this problem by developing predictions polymorphism in the presence both population size change natural selection. If data are available different functional classes variation, priori information suggests that mutations those selectively neutral, then putatively neutral class be used parameters, inferences regarding other performed given parameter estimates. This procedure is more robust assumptions true underlying demography than previous approaches detecting analyzing We apply method large set 301 human genes find (i) widespread negative acting standing nonsynonymous (ii) fitness well predicted several measures amino acid exchangeability, especially site-specific methods, (iii) strong evidence very recent growth.