AUTOMATED DATA PROCESSING FOR GENOME SEQUENCING

描述（改编自研究者摘要）：人类基因组 项目正进入最后阶段，其中基因组序列将被确定 经过许多实验室的大规模努力而确定。 当前 技术似乎基本上足以完成这项任务，但至关重要的是 尽可能减少熟练劳动力的需求，这仍然是一个 提高吞吐量的瓶颈，是序列不均匀的潜在根源 质量，并成为社区更广泛参与的障碍。 目前测序需要熟练劳动力的一个主要方面是人类 审查和操作数据，特别是编辑（修正错误） 组装和碱基检出）、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和 最终完全消除所有此类人类对数据的参与 处理，同时保持最终序列的高精度。 研究人员将通过提高组装的准确性来做到这一点 碱基识别，并通过制定客观标准来估计这种准确性 以便更精确地描绘出可能的序列区域 仍然需要人工审查。 特别是他们将开发针对特定基地的 错误概率作为指导数据收集和测量的标准 最终序列的质量。 这些进步将在 碱基调用和组装程序 phred 和 phrap，可以免费使用 分发给学术研究人员并已在许多地方使用 测序实验室。

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.