Zhang Feng, Liu Jianfeng, Chen Jie, Deng Hong-Wen
Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, PR China.
BMC Bioinformatics. 2008 Aug 5;9:331. doi: 10.1186/1471-2105-9-331.
Population structure is an important cause leading to inconsistent results in population-based association studies (PBAS) of human diseases. Various statistical methods have been proposed to reduce the negative impact of population structure on PBAS. Due to lack of structural information in real populations, it is difficult to evaluate the impact of population structure on PBAS in real populations.
We developed a genetic simulation platform, HAPSIMU, based on real haplotype data from the HapMap ENCODE project. This platform can simulate heterogeneous populations with various known and controllable structures under the continuous migration model or the discrete model. Moreover, both qualitative and quantitative traits can be simulated using additive genetic model with various genetic parameters designated by users.
HAPSIMU provides a common genetic simulation platform to evaluate the impact of population structure on PBAS, and compare the relative performance of various population structure identification and PBAS methods.
群体结构是导致人类疾病基于群体的关联研究（PBAS）结果不一致的重要原因。已经提出了各种统计方法来减少群体结构对PBAS的负面影响。由于实际群体中缺乏结构信息，因此难以评估群体结构对实际群体中PBAS的影响。
我们基于HapMap ENCODE项目的真实单倍型数据开发了一个遗传模拟平台HAPSIMU。该平台可以在连续迁移模型或离散模型下模拟具有各种已知且可控结构的异质群体。此外，使用用户指定的各种遗传参数的加性遗传模型可以模拟定性和定量性状。
HAPSIMU提供了一个通用的遗传模拟平台，以评估群体结构对PBAS的影响，并比较各种群体结构识别方法和PBAS方法的相对性能。
