Northwest Genomics Center for All of Us

西北基因组学中心的目标是为所有人（NWGC）提供高通量基因分型， 全基因组测序（WGS）的个人参加了我们所有的研究计划，使用高度 成功的管道，已产生近二十万个样本和几十个基因分型 数以千计的高质量人类基因组西北基因组学中心汇集了三个国际 公认的PI（Nickerson（Contact）、Eichler和Jarvik），在高通量临床研究领域拥有数十年的专业知识， 基因组学，并与他们的合作研究人员一起，已经返回了成千上万的变异解释， 患者正如我们过去与其他NIH项目所做的那样，我们将与我们所有人协调我们的努力。 国家推进转化科学中心（NCATS）的项目团队， 计划，如数据和研究中心（DRC）和生物库，以及其他基因组中心，如果选择。 为了推进我们所有人研究计划的目标和目的，我们将制作和解释变体 从基因分型阵列中，第1年最多100，000个样本，第2 - 5年最多200，000个样本。我们将 在第一年中，WGS还可以对10，000多个样本进行变异分析;在第二年中， 使用Illumina NovaSeq平台，在3-5年内获得多达200，000个样品。为了做到这一点，我们 威尔： 1-与我们所有的计划，DRC，生物银行和其他团体合作，提供一个有效的， 用于评估和完成高通量基因分型和WGS、调用变体和 解释ACMG 59基因和其他基因变异的影响，如程序所示， CLIA认证的环境。 2-直接与生物样本库互动，仔细制定后勤和制备方法， 接收样本。 3-在流程的每个阶段（从项目启动开始）跟踪所有样品和所有样品的数据传输 使用我们安全、完全交互和集成的实验室信息进行数据传输 管理系统（LIMS）），并根据需要向项目、DRC和其他小组提供报告。 4-提供最高质量的基因型和WGS数据，格式符合IDAT等程序要求 用于基因分型的文件以及用于WGS的CRAM和VCF。 5-提供一个专业的人员和工作人员精通的工作流程，一个完善的高通量 CLIA认证的基因组中心。其中包括在DNA样本方面受过专门培训的个人。 接收、质量控制、大规模生物信息学分析和变异体解释。 6-根据需要协助进行额外的数据解释（ACMG基因以外），出版物（即， 材料和方法），以及计划所需的其他活动。 7-提供来自样品的原始序列数据和与序列相关的所有元数据的安全备份。 项目（即，样品跟踪、储存和QC信息）。 NWGC与NIH成功合作了20多年， 许多有影响力的大型项目，并拥有丰富的经验， 拥有良好业绩记录的团队， 计算和仪器基础设施，这是最先进的， 可以迅速促进我们所有研究计划的目标。 根据我们所有人的需要，NWGC灵活处理 所有年份中建议的最低样本数量，同时还能够 快速扩展，以适应所有 美国研究计划（表1）。NWGC拥有丰富的经验 在很短的时间内扩展，并始终满足项目目标和最后期限。 NWGC完全了解所需的要求， 我们所有人计划的全面合作伙伴，完全有能力和准备。

The goal of the Northwest Genomics Center for All of Us (NWGC) is to provide high-throughput genotyping and whole genome sequencing (WGS) for individuals enrolled in the All of Us Research Program using a highly successful pipeline that has produced genotyping on nearly two hundred thousand samples and tens of thousands of high quality human genomes. The Northwest Genomics Center brings together three internationally recognized PIs (Nickerson (Contact), Eichler, and Jarvik), with decades of expertise in high-throughput clinical genomics and, together with their Co-Investigators, have returned tens of thousands of variant interpretations to patients. As we have done in the past with other NIH programs, we will coordinate our efforts with the All of Us program team in the National Center for Advancing Translational Sciences (NCATS), the other centers in the program such as the Data and Research Center (DRC) and the Biobank, and other Genome Centers if selected. To advance the goals and objectives of the All of Us Research Program we will produce and interpret variants from genotyping arrays for up to 100,000 samples in year 1 and up to 200,000 samples in years 2 - 5. We will also produce and interpret variants on more than 10,000 samples by WGS in year 1; up to 100,000 samples in year 2; and up to 200,000 samples in years 3-5 using the Illumina NovaSeq platform. To accomplish this, we will: 1- Work with the All of Us program, the DRC, the Biobank, and other groups to deliver an efficient and effective process for evaluating and completing high-throughput genotyping and WGS, call variants, and interpret the impact of variants in the ACMG 59 genes and other genes as indicated by the program in a CLIA-certified environment. 2- Interact directly with the Biobank to carefully develop the logistics and methods for preparing and receiving samples. 3- Track all samples and data transfers for all samples at every stage of the process (from project initiation to data delivery using our secure, completely interactive, and integrated laboratory information management system (LIMS)) and provide reports to the program, the DRC, and other groups as required. 4- Provide genotype and WGS data of the highest quality, in formats required by the program such as IDAT files for genotyping and CRAMs and VCFs for WGS. 5- Provide a team of specialized personnel and staff versed in the workflow of a well-established highthroughput CLIA-certified genome center. These include individuals specifically trained in DNA sample receipt, quality control, and large-scale bioinformatics analysis and variant interpretation. 6- Assist as needed with additional data interpretation (beyond the ACMG genes), with publications (i.e., materials and methods), and other activities as required for the program. 7- Provide secure backup of raw sequence data from the samples and all metadata associated with the project (i.e., sample tracking, storage, and QC information). The NWGC has worked successfully for more than 20 years with the NIH on a number of impactful, large-scale projects, and has a highly experienced team with a proven track record that is empowered by a robust administrative, computational, and instrumentation infrastructure that is state-of-the-art and can rapidly facilitate the goals of the All of Us Research Program. Depending on the needs of All of Us, the NWGC is flexible to handle the minimum number of samples proposed in all years while also being able to quickly scale to accommodate the maximum throughput needed by the All of Us Research Program (Table 1). The NWGC has extensive experience scaling in a short timeframe and has always met project goals and deadlines. The NWGC has a complete understanding of the requirements needed to be a full partner for the All of Us program and is fully capable and prepared.