Bibliographic Citation
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Title | Finishing The Euchromatic Sequence Of The Human Genome |
Creator/Author | Rubin, Edward M. ; Lucas, Susan ; Richardson, Paul ; Rokhsar, Daniel ; Pennacchio, Len |
Publication Date | 2004 Sep 07 |
OSTI Identifier | OSTI ID: 859749 |
Report Number(s) | LBNL--57963 |
DOE Contract Number | DE-AC02-05CH11231 |
Other Number(s) | R&D Project: 626021; Other: BnR: KP1103010; TRN: US200522%%339 |
Resource Type | Journal Article |
Resource Relation | Journal: Nature; Journal Volume: 431; Related Information: Journal Publication Date: 10/21/2004 |
Research Org | Ernest Orlando Lawrence Berkeley NationalLaboratory, Berkeley, CA (US) |
Sponsoring Org | USDOE Director. Office of Science. Office of Biological andEnvironmental Research; US National Institutes of Health; The WellcomTruth, Ministry of Education Culture Sports Science and Technology Japan, Federal German Ministry of Education Research and Technology,Projekttrager Biologie Energic Umwelt des BMBF und BMWT,Max-Planck-Society, Deutsche Forschungsgemeinschaft, ThuringerMinisterium fur Wissenschaft Forschung und Kunst, UK Medical ResearchCouncil, European Commission Directorate Science Research andDevelopment, Chinese Academy of Sciences, Ministry of Science andTechnology, National Natural Science Foundation of China |
Subject | 59 BASIC BIOLOGICAL SCIENCES; 60 APPLIED LIFE SCIENCES; ACCURACY; DEATH; GENES; GENETICS; NUCLEOTIDES; PHYSIOLOGY |
Related Subject | human genome International Human Genome Sequencing ConsortiumEuchromatic Sequence |
Description/Abstract | 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 {approx}99% of the euchromatic genome and is accurate to an error rate of {approx}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 genome seems to encode only20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead. |
Country of Publication | United States |
Language | English |
System Entry Date | 2005 Dec 19 |
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