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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Whole-genome shotgun assembly and comparison of human genome assemblies
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Whole-genome shotgun assembly and comparison of human genome assemblies

机译：全基因组shot弹枪组装和人类基因组组装的比较

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摘要

We report a whole-genome shotgun assembly (called WGSA) of the human genome generated at Celera in 2001. The Celera-generated shotgun data set consisted of 27 million sequencing reads organized in pairs by virtue of end-sequencing 2-kbp, 10-kbp, and 50-kbp inserts from shotgun clone libraries. The quality-trimmed reads covered the genome 5.3 times, and the inserts from which pairs of reads were obtained covered the genome 39 times. With the nearly complete human DNA sequence [National Center for Biotechnology Information (NCBI) Build 34] now available, it is possible to directly assess the quality, accuracy, and completeness of WGSA and of the first reconstructions of the human genome reported in two landmark papers in February 2001 [Venter, J. C, Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) Science 291, 1304-1351; International Human Genome Sequencing Consortium (2001) Nature 409, 860-921]. The analysis of WGSA shows 97% order and orientation agreement with NCBI Build 34, where most of the 3% of sequence out of order is due to scaffold placement problems as opposed to assembly errors within the scaffolds themselves. In addition, WGSA fills some of the remaining gaps in NCBI Build 34. The early genome sequences all covered about the same amount of the genome, but they did so in different ways. The Celera results provide more order and orientation, and the consortium sequence provides better coverage of exact and nearly exact repeats.
机译：我们报告了2001年在Celera产生的人类基因组的全基因组shot弹枪装配（称为WGSA）。Celera产生的shot弹枪数据集由2700万测序读段组成，这些读段通过对2-kbp，10- kbp和来自Shotgun克隆库的50 kbp插入片段。经质量修饰的读段覆盖基因组5.3倍，从中获得成对读段的插入片段覆盖基因组39次。有了近乎完整的人类DNA序列[国家生物技术信息中心（NCBI）Build 34]，可以直接评估WGSA的质量，准确性和完整性，并首次评估了两个里程碑式的人类基因组重建2001年2月的论文[Venter，J. C，Adams，MD，Myers，EW，Li，PW，Mural，RJ，Sutton，GG，Smith，HO，Yandell，M.，Evans，CA，Holt，RA等。 （2001）Science 291，1304-1351;国际人类基因组测序联盟（2001）Nature 409，860-921]。 WGSA的分析显示与NCBI Build 34有97％的顺序和方向一致性，其中顺序混乱的3％大部分是由于脚手架放置问题，而不是脚手架本身的组装错误。此外，WGSA填补了NCBI Build 34中的一些剩余空白。早期的基因组序列都涵盖了大约相同数量的基因组，但是它们以不同的方式进行了处理。 Celera结果提供了更多的有序性和方向性，联合体序列提供了对精确和几乎精确重复的更好覆盖。

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