Structural Genomic Variation Analysis for the1000 Genome Project

产品说明：（申请人提供）：1000个基因组计划是一项对1000多个个体的完整基因组进行测序的倡议，并在各种族人群中建立一套常见和不常见的遗传变异参考。该项目旨在更全面地识别所有类型的遗传变异，包括单核苷酸多态性（SNP）和结构基因组变异（SV），其中包括在人类进化过程中被复制，删除，倒置或易位的区域。这些结构变异中的一些与许多不同的疾病表型相关，因此在人类健康中起着重要作用。在该项目的试点阶段，开发了许多不同但互补的分析方法来检测多个测序平台上的这些类型的变异。然而，仍然需要以最佳方式合并这些方法，以应用于将在生产阶段产生的大量基因组序列数据。我们的联合体包括1000基因组计划的结构基因组变异分析组的成员，并在过去的一年中一直在进行1000基因组试验计划2的分析。我们将共同努力，协调我们的资源，开发一个统一的流程来分析这些数据。我们将研究整合和优化现有检测方法的新方法，并将与类似的国际和工业努力合作，为生物医学研究界提供一套高质量的结构变体。具体目标1：促进和协调计算分析，以提供1000个基因组项目产生的数据的结构变异数据。具体目标2：研究和开发结构基因组变异数据整合和处理的新方法。

DESCRIPTION: (provided by applicant): The 1000 Genomes Project is an initiative to sequence the complete genomes of over 1000 individuals and create a reference set of common and uncommon genetic variation among various ethnic populations. This project aims to more comprehensively identify all types of genetic variation, including Single nucleotide polymorphisms (SNPs) and Structural genome variants (SVs) which include regions that have been duplicated, deleted, inverted, or translocated through the course of human evolution. Some of these structural variants have been correlated with many different disease phenotypes and thus play a major role in human health. In the course of the pilot phase of this project, numerous diverse, yet complementary, analytical methods have been developed to detect these types of variation on multiple sequencing platforms. However, there remains a need to coalesce these approaches in an optimal fashion to apply to the large amounts of genomic sequence data that will be produced during the production phase. Our consortium include members of the structural genomic variation analysis group for the 1000 genome project and have been conducting analysis from the 1000 genome pilot project 2 over the past year. We will conduct a concerted effort to coordinate our resources to develop a unified process to analyze these data. We will research new ways of integrating and optimizing our existing methods of detection, and will cooperate with similar international and industrial efforts in order to provide a set of high quality structural variants to the biomedical research community. Specific Aim 1: Facilitate and coordinate computational analysis to provide structural variation data on data being generated by the 1000 genomes project. Specific Aim 2: Research and develop new methods for structural genomic variation data integration and processing.