Polony Sequencing and the $1000 Genome

Polony 测序和价值 1000 美元的基因组

• 批准号: 7976897
• 负责人: Jeremy S Edwards
• 金额: $ 104.78万
• 依托单位: UNIVERSITY OF NEW MEXICO HEALTH SCIS CTR
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-09-01 至 2013-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7976897
• 关键词: Accounting; Adoption; Bacterial Genome; Base Sequence; Code; Computer software; DNA; DNA Library; Data; Emulsions; Genome; Goals; Human Genome; Individual; Laboratories; Length; Libraries; Ligation; Maps; Medicine; Mus; Nature; Positioning Attribute; Protocols documentation; Publishing; Reading; Reagent; Reporting; Rewards; Risk; Running; Science; Single Nucleotide Polymorphism; Staging; Technology; base; computerized tools; cost; density; experience; genome sequencing; high reward; improved; meetings; novel; open source; public health relevance

DESCRIPTION (provided by applicant): We propose to further develop and utilize ultra-high throughput polony genome sequencing with the primary goal of generating raw data to re-sequence the human genome in about one week (including library prep and sequencing) for less than $1,000. Currently, the technology is well advanced, but further progress is needed to meet our goals. As the critical quantitative milestone of the project, we will report the sequence for a human genome with "a target sequence quality equivalent to or better than that of the mouse assembly published in December 2002 (Nature 420:520, 2002)". The project is divided into four specific aims, which are to (1) increase the polony sequencing read length using a cyclic ligation strategy that involves enzymatic cleavage, (2) improve the library construction and emulsion protocols, (3) increase read density by moving to alternative clonal amplification strategies (other than emulsion PCR or ePCR), and (4) extend our software capabilities to allow SNP calls from our new proposed sequencing raw data. Progress towards our goals is at an advanced stage. We are able to routinely sequence bacterial genomes and we are on the verge of sequencing an entire human genome to the required quality level. Overall, we feel that there are substantial rewards to be gained by pursuing the goals described herein. We have extensive experience with the proposed technologies and we have a clear path toward the $1,000 genome. PUBLIC HEALTH RELEVANCE: Herein we propose to further develop and utilize Polony Sequencing Technology with the primary goal of sequencing the human genome in about one week at a cost of less than $1,000. We propose several approaches that will progressively move us toward and beyond the $1,000 human genome. We firmly believe that polony sequencing technology, as proposed, can achieve the $1,000 genome goal and undoubtedly revolutionize medicine.

描述（由申请人提供）：我们建议进一步开发和利用超高的吞吐量polony基因组测序，其主要目标是生成原始数据以不到1,000美元的价格在一个星期内重新序列（包括图书馆准备和测序）。 目前，这项技术已经很先进，但是需要进一步的进步来实现我们的目标。 作为该项目的关键定量里程碑，我们将报告“人类基因组的序列”，“目标序列质量等同于或优于2002年12月发布的小鼠组件（自然420：520，2002）”。 该项目分为四个特定目标，是（1）使用涉及酶促切割的环状连接策略来增加polony测序读取长度，（2）改善图书馆的构建和乳液协议，（3）通过向其他乳液扩增策略（我们提出的STECRICES PCR或EPCR）来增加读取密度，并提高读取密度（4） 数据。 朝着我们的目标进步是在高级阶段。 我们能够常规地序列细菌基因组，并且即将对整个人类基因组进行测序至所需的质量水平。 总体而言，我们认为通过追求本文所述的目标将获得可观的回报。 我们在拟议的技术方面拥有丰富的经验，并且我们有一条通往1,000美元基因组的清晰途径。 公共卫生相关性：在本文中，我们建议进一步开发和利用Polony测序技术，其主要目标是在大约一周内对人类基因组进行测序，成本不到1,000美元。 我们提出了几种方法，这些方法将逐渐使我们沿着$ 1,000的人类基因组发展。 我们坚信，按建议的polony测序技术可以实现1,000美元的基因组目标，无疑可以彻底改变医学。