Developing a gene model for simulations that incorporates multi-species conservation

[摘要] The genetic architecture, the number, frequency, and effect size of disease causing alleles for many common diseases including Type 2 Diabetes is not fully understood. Genetic simulations can be used to make predictions under specified genetic architecture models. Models whose predictions are inconsistent with empirical data can be rejected. We extended a gene simulation model previously published by our lab. The distribution of number and length of coding and intron regions of each simulated gene was consistent with the distribution in the human genome. Selection pressure against mutations was modeled by utilizing the cross-species conservation of each region. The combined distribution of variants by their frequency over 500 genes was compared between the simulated genes and the corresponding empirical data. This distribution of variants between the simulated and empirical data was found to be consistent.

[发布机构] Massachusetts Institute of Technology