Large Scale Sequencing and Analysis of Genomes

基因组大规模测序和分析

基本信息

批准号：
7940257
负责人：
ERIC S LANDER
金额：
$ 900万
依托单位：
BROAD INSTITUTE, INC.
依托单位国家：
美国
项目类别：
财政年份：
2009
资助国家：
美国
起止时间：
2009-09-30 至 2011-09-29
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7940257
关键词：
Accounting Alleles Arts Atlases Benchmarking Biological Categories Collaborations Communities Complex Computational algorithm Creativeness DNA DNA Resequencing DNA Sequence Data Data Quality Development Direct Costs Exons Fruit Generations Genes Genome Genomics Goals Grant Human Judgment Laboratories Large-Scale Sequencing Leadership Length Logistics Malignant Neoplasms Medical Medical Genetics Methods National Human Genome Research Institute Operative Surgical Procedures Output Patients Performance Process Production Progress Reports Protocols documentation Reading Relative (related person)Reporting Research Proposals Resources Sampling Sequence Analysis Shotgun Sequencing Shotguns Technical Expertise Technology Time Translating Uncertainty Vision Work base cancer genome computerized tools cost design dog genome experience falls flexibility genome sequencing instrument interest mammalian genome new technology novel strategies promoter scale up tool tumor

项目摘要

Genomics stands at a remarkable moment of scientific opportunity and technological ferment. DNA sequence information is becoming an increasingly powerful for investigating biological question, and new technologies promise to decrease dramatically the cost of DNA sequencing and thereby further expand its reach. At the same time, the scientific and technological path forward has many uncertainties and obstacles. For these reasons, NHGRI seeks to support genome centers with the ability to provide both scientific and technological leadership through this exciting period of transition. This proposal has three specific aims: Aim 1. Current technology. We propose to operate a state-of-the-art genome center using current sequencing technology, continuing our 15-year track record of high throughput, low cost and flexibility. Our annual throughput will exceed 61 billion bases, with costs decreasing to $0.29/kQ20 base by the end of Year 4. The capacity will have the potential to be allocated flexibly across shotgun sequencing, targeted sequencing and finishing/improvement. Aim 2. New technology. In parallel, we aim to completely replace the current generation with new, disruptive technologies, with the goal of dramatically decreasing cost and increasing output. During the first year, we will operate two new sequencing platforms (454 and Solexa) at sufficient scale to understand their true performance, cost and utility and to produce valuable data. Based on the results, we aim to scale-up one or both platforms as soon as possible. This work requires more than simply implementing new instruments at production scale, although this is a substantial challenge. The greater challenge is that the two platforms are not currently suited to NHGRI's key genomic applications ¿ namely, genome assembly and directed re-sequencing. We will develop the full set of laboratory and computational tools required to adapt the technologies to these key applications. Our goal will be to achieve a cost reduction of >30-fold in these key applications by the end of the grant period. Aim 3. Scientific leadership. We will continue to serve as an intellectual resource for the scientific community, by pioneering new approaches for using DNA sequence to solve important biomedical problems and by working with the community to rapidly disseminate ideas, methods and data.

基因组学正处于科学机遇和 DNA 技术发酵的非凡时刻。序列信息对于研究生物学问题变得越来越强大，并且新的技术有望大幅降低 DNA 测序的成本，从而进一步扩大其应用范围与此同时，科技前进的道路也存在许多不确定性和障碍。出于这些原因，NHGRI 寻求支持基因组中心，使其能够提供科学和在这个激动人心的过渡时期保持技术领先地位。该提案有三个具体目标：目标 1. 我们建议利用现有技术运营最先进的基因组中心。测序技术，延续了我们 15 年高通量、低成本和灵活性的记录。年吞吐量将超过 610 亿个碱基，到年底成本将降至 0.29 美元/kQ20 碱基 4. 容量将有可能在鸟枪法测序、有针对性的范围内灵活分配排序和整理/改进。目标 2. 同时，我们的目标是用新的技术完全取代当前的技术。颠覆性技术，其目标是在第一阶段大幅降低成本并增加产量。今年，我们将运营两个新的测序平台（454 和 Solexa），其规模足以了解它们的真实的性能、成本和效用，并根据结果产生有价值的数据，我们的目标是扩大规模。尽快一个或两个平台。这项工作需要的不仅仅是在生产规模上实施新仪器，尽管这是一个更大的挑战是这两个平台目前不适合NHGRI的关键。基因组应用即基因组组装和定向重测序，我们将开发全套。使技术适应这些关键应用所需的实验室和计算工具。我们的目标是在资助结束前将这些关键应用的成本降低 30 倍以上时期。目标 3. 科学领导力。我们将继续充当科学界的智力资源。社区，开拓使用 DNA 序列解决重要生物医学问题的新方法并与社区合作快速传播想法、方法和数据。