CONTINUING MEGABASE SEQUENCING AT THE BCM HGSC

贝勒医学院人类基因组测序中心 将应用可扩展、高通量的DNA测序过程 为产生完整的人类基因组所做的操作努力 参考序列和NIH/DOE人类目标的实现 基因组计划五年计划。在能力的第一年 产生原始的DNA测序读数，并完成DNA序列的高 质量，每一项都将积极扩张。增加的原始数据 生产将在很大程度上依赖于集成了 商业化的设备、本地开发的机器以及 建立了BCM-HGSC测序方案。New Perkin-Elmer 3700 毛细管DNA测序仪将用于提高吞吐量和整个 活动将在新装修的BCM-HGSC空间内举行。整理 费率将通过信息学工具的组合而提高，翻一番 链式质粒系统，以及自动克隆重新排列。这个 测序将在一年中产生至少44 Mb的高质量数据 第一，第二年为100Mb/年，之后为120Mb/年。其他内容 也将产生4.5-5.0X和9.0-10X的序列覆盖， 从而实现超过120Mb的额外基因组覆盖 在第一年。《起草》这一序列将一直持续到最后 2001年，届时重点将转向更深入地覆盖所有 序列流水线中的克隆。到2003年底，将有 大约1.2 GB的序列覆盖，最小为530 Mb 高质量，其余的“接近完成”。与建议的 提高整理效率，1.2 GB中剩余的700 Mb 也将完成。最小计划要求完成地图绘制 代表所有人类12号染色体(120 Mb)、3号染色体(240)的克隆 Mb)和部分X染色体(40mb)。后续目标，超出这一范围 400Mb，将取决于社区映射和排序策略。 在这段时间内，将完成少量的老鼠序列， 以及其他成功社区所导致的任何过剩容量 人类DNA测序的努力将释放BCM-HGSC资源以 进一步把重点放在模式生物上。

The Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) will apply a scalable, high throughput DNA sequencing process in a co- operative effort for the generation of a complete human genomic reference sequence, and the fulfillment of the aims of the NIH/DOE Human Genome Project five year plan. In the first year of the capacity to produce raw DNA sequencing reads, and finishing of DNA sequence to high quality, will each be aggressively expanded. The increased raw data production will rely heavily on an automated platform that integrates commercially available devices, machines developed locally, and established BCM-HGSC sequencing protocols. New Perkin-Elmer 3700 capillary DNA sequencers will be used to boost throughput and the entire activity will be housed in newly renovated BCM-HGSC space. Finishing rates will be increased by a combination of informatics tools, a double stranded plasmid system, and automatic clone re-arraying. The sequencing will generate at least 44 Mb of high quality data in year one, 100 Mb/year in year two, and 120 Mb/year thereafter. Additional sequence coverage at 4.5-5.0 X, and at 9.0-10 X will also be generated, so that more than 120 Mb of additional genome coverage will be achieved in the first year. The sequence 'drafting' will continue until the end of 2001, when the emphasis will shift towards deeper coverage of all clones in the sequence pipeline. By the end of 2003 there will be approximately 1.2 Gb of sequence coverage, with a minimum of 530 Mb at high quality and the remainder 'near finished'. With the proposed increases in finishing efficiency, the remaining 700 Mb of the 1.2 Gb will also be finished. The minimal plan calls for completion of mapped clones representing all human Chromosome 12 (120 Mb), Chromosome 3 (240 Mb) and portions of Chromosome X (40Mb). Subsequent targets, beyond this 400 Mb, will depend on the community mapping and sequencing strategies. A modest amount of murine sequence will be completed during this time, and any excess capacity resulting from other successful community efforts for human DNA sequencing will free the BCM-HGSC resource to focus further on model organisms.