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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 Date2004 Sep 07
OSTI IdentifierOSTI ID: 859749
Report Number(s)LBNL--57963
DOE Contract NumberDE-AC02-05CH11231
Other Number(s)R&D Project: 626021; Other: BnR: KP1103010; TRN: US200522%%339
Resource TypeJournal Article
Resource RelationJournal: Nature; Journal Volume: 431; Related Information: Journal Publication Date: 10/21/2004
Research OrgErnest Orlando Lawrence Berkeley NationalLaboratory, Berkeley, CA (US)
Sponsoring OrgUSDOE 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
Subject59 BASIC BIOLOGICAL SCIENCES; 60 APPLIED LIFE SCIENCES; ACCURACY; DEATH; GENES; GENETICS; NUCLEOTIDES; PHYSIOLOGY
Related Subjecthuman 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 PublicationUnited States
LanguageEnglish
System Entry Date2005 Dec 19

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