AUTOMATED DATA PROCESSING FOR GENOME SEQUENCING

基因组测序的自动化数据处理

• 批准号: 2889651
• 负责人: PHILIP P GREEN
• 金额: $ 35.03万
• 依托单位: UNIVERSITY OF WASHINGTON
• 依托单位国家: 美国
• 财政年份: 1992
• 资助国家: 美国
• 起止时间: 1992-09-29 至 2001-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2889651
• 关键词: computer assisted sequence analysis; computer program /software; computer system design /evaluation; data collection; genetic mapping; genome; linkage mapping; mathematical model; nucleic acid sequence; pulsed field gel electrophoresis; restriction mapping; sequence tagged sites; statistics /biometry

DESCRIPTION (Adapted from Investigator's Abstract): The human genome project is moving into its final phase, in which the genome sequence will be determined in large-scale efforts in a number of laboratories. Current technology appears largely adequate to the task but it will be essential to reduce as much as possible the need of skilled human labor, which remains a bottleneck to increased throughput, a potential source of uneven sequence quality, and an obstacle to more widespread participation by the community. A major aspect of sequencing that currently requires skilled labor is human review and manipulation of data, particularly editing (revision of errors in assembly and base calls), assessment of data quality, and decisions regarding data collection. The investigators' goal is to reduce, and eventually completely eliminate, all such human involvement in data processing while maintaining a high level of accuracy of the final sequence. The investigators will do this by improving the accuracy of assembly and base-calling, and by developing objective criteria to estimate this accuracy so as to more precisely delineate those regions of the sequence that may still require human review. In particular they will develop base-specific error probabilities as a criterion to guide data collection and to measure the quality of the final sequence. These advances will be implemented in the basecalling and assembly programs phred and phrap, which are freely distributed to academic researchers and are already in use in a number of sequencing laboratories.

描述（改编自研究者摘要）：人类基因组 该项目正在进入最后阶段，基因组序列将被 在许多实验室的大规模努力中确定。 电流 技术似乎基本上足以完成这项任务，但它将是必不可少的， 尽可能减少对熟练劳动力的需求，这仍然是一个问题。 增加吞吐量的瓶颈，不均匀序列的潜在来源 质量，并阻碍社区更广泛的参与。 目前需要熟练劳动力的测序的一个主要方面是人 数据的审查和处理，特别是编辑（修改 汇编和基本调用）、数据质量评估和决策 关于数据收集。 研究人员的目标是减少， 最终完全消除所有这些人类参与数据 在保持最终序列的高水平准确性的同时进行处理。 研究人员将通过提高组装的准确性来做到这一点， 基地呼叫，并制定客观的标准，以估计这种准确性 以便更精确地描绘序列的那些区域， 仍然需要人工审核。 特别是他们将开发基地特定的 错误概率作为指导数据收集和衡量 最终序列的质量。 这些进展将在 碱基调用和汇编程序phred和phrap，它们可以自由地 分发给学术研究人员，并已在一些使用 测序实验室