Detecting Natural Selection for the 1000 Genomes Dataset

描述（由申请人提供）：国际1000个基因组计划旨在生成人类基因组高分辨率变异的新数据集，以支持人类生物学的各种研究，包括人类群体遗传学、关联研究和人类疾病研究。来自10个群体的1000多名匿名个体的基因组将使用最先进的测序技术进行测序。本项目是对RFA（RFA-HG-09-002）的响应，用于分析数据集。它将侧重于估计突变参数，描述连锁不平衡和检测人类基因组不同位置的自然选择领域。主要目的是开发新的/或改进现有的统计方法，主要是基于合并理论，考虑到大样本的独特性和不可避免的大的不确定性的序列。新开发或改进的方法将在一个方便用户的软件包中实施。相关性：由于1000个基因组项目的一个主要目的是为研究人类疾病提供高分辨率的变异，因此，通过该项目的研究等适当理解，这些数据将是其用于人类生物学研究，包括医学研究的基础。

DESCRIPTION (provided by applicant): The international 1000 Genomes Project is designed to generate a new dataset of high resolution variation in the human genome to support various studies on human biology, including human population genetics, association studies and studies of human diseases. The genomes of more than 1000 anonymized individuals from 10 populations will be sequenced using state of the art sequencing technologies. This project is in response to a RFA (RFA-HG-09-002) for analyzing the dataset. It will focus on the area of estimating mutational parameter, characterizing linkage disequilibrium and detecting natural selection on various locations of the human genome. The primary aim is to develop new/or improve existing statistical methods based mostly on coalescent theory taking into consideration uniqueness of the large sample and unavoidable large uncertainties in the sequences. The newly developed or improved methods will be implemented in a user-friendly software package. RELEVANCE: Since one primary aim of the 1000 genomes project is to provide high resolution variation for studying human diseases, a proper understanding, such as through the research of this project, these data will be fundamental for their use for human biological studies, including medical research.