Detecting Natural Selection for the 1000 Genomes Dataset

描述（由申请人提供）：国际千人基因组计划旨在生成一个新的高分辨率人类基因组变异数据集，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。将使用最先进的测序技术对来自10个种群的1000多名匿名个体的基因组进行测序。本项目是对数据集分析RFA （RFA- hg -09-002）的响应。它将集中在估计突变参数，表征连锁不平衡和检测自然选择在人类基因组的不同位置。主要目的是开发新的/或改进现有的统计方法，主要基于聚结理论，考虑到大样本的唯一性和序列中不可避免的大不确定性。新开发或改进的方法将在一个用户友好的软件包中实现。相关性：由于1000个基因组计划的一个主要目标是为研究人类疾病提供高分辨率变异，因此，如通过该项目的研究，对这些数据的正确理解将是将其用于包括医学研究在内的人类生物学研究的基础。

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.