AUTOMATED DATA PROCESSING FOR GENOME SEQUENCING

描述(改编自《研究人员摘要》)：人类基因组 该项目正在进入最后阶段，在这一阶段，基因组序列将 这是在一些实验室的大规模努力中确定的。当前 技术似乎在很大程度上足以完成这项任务，但它将对 尽可能减少对熟练人力的需求，这仍然是一个 吞吐量增加的瓶颈，序列不均匀的潜在来源 质量不高，也是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 审查和处理数据，特别是编辑(修订中的错误 汇编和基本调用)、数据质量评估和决策 关于数据收集。调查人员的目标是减少，以及 最终完全消除，所有这种人类对数据的参与 在保持最终序列的高精度的同时进行处理。 调查人员将通过提高组装和装配的准确性来做到这一点 并通过制定客观标准来估计这一准确性 以便更准确地描绘序列中可以 仍然需要人工审查。特别是，他们将开发特定于基地的 将误差概率作为指导数据收集和测量的标准 最终序列的质量。这些进展将在#年实施 基本呼叫和组装程序Phred和Phrap，这两个程序是免费的 分发给学术研究人员，并已在许多 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.