Finishing the euchromatic sequence of the human genome

doi:10.1038/nature03001

科研成果详情

题名	Finishing the euchromatic sequence of the human genome
作者	Collins, F.S.; Lander, E.S.; Rogers, J.; Waterson, R.H.
发表期刊	Nature 影响因子和分区
语种	英语
原始文献类型	Journal article (JA)
关键词	Biomedical engineering Genes Physiology Proteins Research Biological analysis Euchromatic sequence Genome sequence Nucleotides
摘要	The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead.
资助项目	National Institutes of Health[U54HG003273];
出版者	Nature Publishing Group
ISSN	0028-0836
卷号	431 期号:7011 页码:931-945
DOI	10.1038/nature03001
页数	71
收录类别	EI ; SCOPUS
发表日期	2004-10-21
EI入藏号	2004468458647
EI主题词	Genetic engineering
URL	查看原文
Scopus记录号	2-s2.0-7244245762
CNS重要论文	CNS重要论文
自科自定义期刊分类	T1类
引用统计	被引频次：3329[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/34890
推荐引用方式 GB/T 7714	Collins, F.S.,Lander, E.S.,Rogers, J.,et al. Finishing the euchromatic sequence of the human genome[J]. Nature,2004,431(7011):931-945.
APA	Collins, F.S., Lander, E.S., Rogers, J., & Waterson, R.H.. (2004). Finishing the euchromatic sequence of the human genome. Nature, 431(7011), 931-945.
MLA	Collins, F.S.,et al."Finishing the euchromatic sequence of the human genome".Nature 431.7011(2004):931-945.