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TitleFinishing the euchromatic sequence of the human genome
Date Issued2004-10-21
Source PublicationNature   Impact Factor & Quartile
Original Document TypeJournal article (JA)
KeywordBiomedical engineering Genes Physiology Proteins Research Biological analysis Euchromatic sequence Genome sequence Nucleotides
AbstractThe 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.
Funding ProjectNational Institutes of Health[U54HG003273];
PublisherNature Publishing Group
Page Number71
Indexed ByEI ; SCOPUS
EI Accession Number2004468458647
EI KeywordsGenetic engineering
CNS Important PaperCNS重要论文
User Journal ClassificationT1类
scopus subject classificationMultidisciplinary
Citation statistics
Cited Times:3329[WOS]   [WOS Record]     [Related Records in WOS]
Document TypeJournal article
Recommended Citation
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.

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