UW Genome Center Large-scale Sequencing Program

描述：（由申请人提供）：华盛顿大学基因组中心（UWGC）提议继续参与国家人类基因组研究所（NHGRI）大规模测序研究网络。自1998年该网络成立以来，UWGC一直参与其中，并有望为人类基因组计划（HGP）贡献约140兆bp的已完成人类序列。为了实现这一目标，UWGC在大规模测序的最后阶段实施了高度自动化的过程。UWGC还拥有足够的能力来生产原始测序数据，以支持其完成工作，以及为其他测序项目收集数十兆碱基对的原始数据。对于大型项目，包括UWGC对HGP的大部分贡献，UWGC率先将原始数据生产大规模外包，随着原始测序数据成为可以常规生产的商品，这种模式可能与大规模测序越来越相关。UWGC的下一个生产目标是在2003年4月发布人类参考序列，以解决与基因组复制相关的空白和疑似大规模错误组装。该提案的一个独特之处在于，它使用了世界野生动物协会开发的新技术，用于比较多个人目标区域的高分辨率、基于克隆的物理地图。因此，本文的工作将提高目标区域人类参考序列的质量，确认这些区域的序列反映了人类群体中常见的序列组织，并提供有关该区域结构多态性程度的信息。适当时，将确定结构多态区域的多个备选序列。UWGC的其他功能，例如自动整理能力，将按需要提供给NHGRI网络。

DESCRIPTION: (provided by applicant): The University of Washington Genome Center (UWGC) proposes continued participation in the National Human Genome Research Institute (NHGRI) Research Network for Large-Scale Sequencing. The UWGC has participated in the network since its inception in 1998 and is on track to contribute approximately 140 Mbp of finished human sequence to the Human Genome Project (HGP). To achieve this goal, the UWGC has implemented a highly automated process for the finishing stages of large-scale sequencing. The UWGC has also put in place sufficient capacity to produce raw sequencing data to support its finishing efforts, as well as raw-data collection for other sequencing projects on a scale of tens of megabase pairs. For large projects, including much of the UWGC's contributions to the HGP, the UWGC has pioneered large-scale outsourcing of raw-data production, a model that is likely to be increasingly relevant to large-scale sequencing as raw sequencing data become a commodity that can be routinely produced. The UWGC proposes, as its next production objective, to resolve gaps and suspected large-scale misassemblies associated with genomic duplications, in the April, 2003, release of the human-reference sequence. A unique feature of the proposal is the use of new technology developed at the UWGC for comparing high-resolution, clone-based physical maps of targeted regions in multiple humans. Hence, the proposed work will improve the quality of the human-reference sequence in targeted regions, confirm that the sequence of these regions reflects the common sequence organization found in the human population, and provide information about the extent of structural polymorphism in the region. When appropriate multiple alternative sequences of structurally polymorphic regions will be determined. Other capabilities of the UWGC such as its automated finishing capacity will be made available to the NHGRI network on an as-needed basis.