
PMID- 11181995
OWN - NLM
STAT- MEDLINE
DCOM- 20010315
LR  - 20251030
IS  - 0036-8075 (Print)
IS  - 0036-8075 (Linking)
VI  - 291
IP  - 5507
DP  - 2001 Feb 16
TI  - The sequence of the human genome.
PG  - 1304-51
AB  - A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of 
      the human genome was generated by the whole-genome shotgun sequencing method. The 
      14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 
      high-quality sequence reads (5.11-fold coverage of the genome) from both ends of 
      plasmid clones made from the DNA of five individuals. Two assembly strategies-a 
      whole-genome assembly and a regional chromosome assembly-were used, each 
      combining sequence data from Celera and the publicly funded genome effort. The 
      public data were shredded into 550-bp segments to create a 2.9-fold coverage of 
      those genome regions that had been sequenced, without including biases inherent 
      in the cloning and assembly procedure used by the publicly funded group. This 
      brought the effective coverage in the assemblies to eightfold, reducing the 
      number and size of gaps in the final assembly over what would be obtained with 
      5.11-fold coverage. The two assembly strategies yielded very similar results that 
      largely agree with independent mapping data. The assemblies effectively cover the 
      euchromatic regions of the human chromosomes. More than 90% of the genome is in 
      scaffold assemblies of 100,000 bp or more, and 25% of the genome is in scaffolds 
      of 10 million bp or larger. Analysis of the genome sequence revealed 26,588 
      protein-encoding transcripts for which there was strong corroborating evidence 
      and an additional approximately 12,000 computationally derived genes with mouse 
      matches or other weak supporting evidence. Although gene-dense clusters are 
      obvious, almost half the genes are dispersed in low G+C sequence separated by 
      large tracts of apparently noncoding sequence. Only 1.1% of the genome is spanned 
      by exons, whereas 24% is in introns, with 75% of the genome being intergenic DNA. 
      Duplications of segmental blocks, ranging in size up to chromosomal lengths, are 
      abundant throughout the genome and reveal a complex evolutionary history. 
      Comparative genomic analysis indicates vertebrate expansions of genes associated 
      with neuronal function, with tissue-specific developmental regulation, and with 
      the hemostasis and immune systems. DNA sequence comparisons between the consensus 
      sequence and publicly funded genome data provided locations of 2.1 million 
      single-nucleotide polymorphisms (SNPs). A random pair of human haploid genomes 
      differed at a rate of 1 bp per 1250 on average, but there was marked 
      heterogeneity in the level of polymorphism across the genome. Less than 1% of all 
      SNPs resulted in variation in proteins, but the task of determining which SNPs 
      have functional consequences remains an open challenge.
FAU - Venter, J C
AU  - Venter JC
AD  - Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA. 
      humangenome@celera.com
FAU - Adams, M D
AU  - Adams MD
FAU - Myers, E W
AU  - Myers EW
FAU - Li, P W
AU  - Li PW
FAU - Mural, R J
AU  - Mural RJ
FAU - Sutton, G G
AU  - Sutton GG
FAU - Smith, H O
AU  - Smith HO
FAU - Yandell, M
AU  - Yandell M
FAU - Evans, C A
AU  - Evans CA
FAU - Holt, R A
AU  - Holt RA
FAU - Gocayne, J D
AU  - Gocayne JD
FAU - Amanatides, P
AU  - Amanatides P
FAU - Ballew, R M
AU  - Ballew RM
FAU - Huson, D H
AU  - Huson DH
FAU - Wortman, J R
AU  - Wortman JR
FAU - Zhang, Q
AU  - Zhang Q
FAU - Kodira, C D
AU  - Kodira CD
FAU - Zheng, X H
AU  - Zheng XH
FAU - Chen, L
AU  - Chen L
FAU - Skupski, M
AU  - Skupski M
FAU - Subramanian, G
AU  - Subramanian G
FAU - Thomas, P D
AU  - Thomas PD
FAU - Zhang, J
AU  - Zhang J
FAU - Gabor Miklos, G L
AU  - Gabor Miklos GL
FAU - Nelson, C
AU  - Nelson C
FAU - Broder, S
AU  - Broder S
FAU - Clark, A G
AU  - Clark AG
FAU - Nadeau, J
AU  - Nadeau J
FAU - McKusick, V A
AU  - McKusick VA
FAU - Zinder, N
AU  - Zinder N
FAU - Levine, A J
AU  - Levine AJ
FAU - Roberts, R J
AU  - Roberts RJ
FAU - Simon, M
AU  - Simon M
FAU - Slayman, C
AU  - Slayman C
FAU - Hunkapiller, M
AU  - Hunkapiller M
FAU - Bolanos, R
AU  - Bolanos R
FAU - Delcher, A
AU  - Delcher A
FAU - Dew, I
AU  - Dew I
FAU - Fasulo, D
AU  - Fasulo D
FAU - Flanigan, M
AU  - Flanigan M
FAU - Florea, L
AU  - Florea L
FAU - Halpern, A
AU  - Halpern A
FAU - Hannenhalli, S
AU  - Hannenhalli S
FAU - Kravitz, S
AU  - Kravitz S
FAU - Levy, S
AU  - Levy S
FAU - Mobarry, C
AU  - Mobarry C
FAU - Reinert, K
AU  - Reinert K
FAU - Remington, K
AU  - Remington K
FAU - Abu-Threideh, J
AU  - Abu-Threideh J
FAU - Beasley, E
AU  - Beasley E
FAU - Biddick, K
AU  - Biddick K
FAU - Bonazzi, V
AU  - Bonazzi V
FAU - Brandon, R
AU  - Brandon R
FAU - Cargill, M
AU  - Cargill M
FAU - Chandramouliswaran, I
AU  - Chandramouliswaran I
FAU - Charlab, R
AU  - Charlab R
FAU - Chaturvedi, K
AU  - Chaturvedi K
FAU - Deng, Z
AU  - Deng Z
FAU - Di Francesco, V
AU  - Di Francesco V
FAU - Dunn, P
AU  - Dunn P
FAU - Eilbeck, K
AU  - Eilbeck K
FAU - Evangelista, C
AU  - Evangelista C
FAU - Gabrielian, A E
AU  - Gabrielian AE
FAU - Gan, W
AU  - Gan W
FAU - Ge, W
AU  - Ge W
FAU - Gong, F
AU  - Gong F
FAU - Gu, Z
AU  - Gu Z
FAU - Guan, P
AU  - Guan P
FAU - Heiman, T J
AU  - Heiman TJ
FAU - Higgins, M E
AU  - Higgins ME
FAU - Ji, R R
AU  - Ji RR
FAU - Ke, Z
AU  - Ke Z
FAU - Ketchum, K A
AU  - Ketchum KA
FAU - Lai, Z
AU  - Lai Z
FAU - Lei, Y
AU  - Lei Y
FAU - Li, Z
AU  - Li Z
FAU - Li, J
AU  - Li J
FAU - Liang, Y
AU  - Liang Y
FAU - Lin, X
AU  - Lin X
FAU - Lu, F
AU  - Lu F
FAU - Merkulov, G V
AU  - Merkulov GV
FAU - Milshina, N
AU  - Milshina N
FAU - Moore, H M
AU  - Moore HM
FAU - Naik, A K
AU  - Naik AK
FAU - Narayan, V A
AU  - Narayan VA
FAU - Neelam, B
AU  - Neelam B
FAU - Nusskern, D
AU  - Nusskern D
FAU - Rusch, D B
AU  - Rusch DB
FAU - Salzberg, S
AU  - Salzberg S
FAU - Shao, W
AU  - Shao W
FAU - Shue, B
AU  - Shue B
FAU - Sun, J
AU  - Sun J
FAU - Wang, Z
AU  - Wang Z
FAU - Wang, A
AU  - Wang A
FAU - Wang, X
AU  - Wang X
FAU - Wang, J
AU  - Wang J
FAU - Wei, M
AU  - Wei M
FAU - Wides, R
AU  - Wides R
FAU - Xiao, C
AU  - Xiao C
FAU - Yan, C
AU  - Yan C
FAU - Yao, A
AU  - Yao A
FAU - Ye, J
AU  - Ye J
FAU - Zhan, M
AU  - Zhan M
FAU - Zhang, W
AU  - Zhang W
FAU - Zhang, H
AU  - Zhang H
FAU - Zhao, Q
AU  - Zhao Q
FAU - Zheng, L
AU  - Zheng L
FAU - Zhong, F
AU  - Zhong F
FAU - Zhong, W
AU  - Zhong W
FAU - Zhu, S
AU  - Zhu S
FAU - Zhao, S
AU  - Zhao S
FAU - Gilbert, D
AU  - Gilbert D
FAU - Baumhueter, S
AU  - Baumhueter S
FAU - Spier, G
AU  - Spier G
FAU - Carter, C
AU  - Carter C
FAU - Cravchik, A
AU  - Cravchik A
FAU - Woodage, T
AU  - Woodage T
FAU - Ali, F
AU  - Ali F
FAU - An, H
AU  - An H
FAU - Awe, A
AU  - Awe A
FAU - Baldwin, D
AU  - Baldwin D
FAU - Baden, H
AU  - Baden H
FAU - Barnstead, M
AU  - Barnstead M
FAU - Barrow, I
AU  - Barrow I
FAU - Beeson, K
AU  - Beeson K
FAU - Busam, D
AU  - Busam D
FAU - Carver, A
AU  - Carver A
FAU - Center, A
AU  - Center A
FAU - Cheng, M L
AU  - Cheng ML
FAU - Curry, L
AU  - Curry L
FAU - Danaher, S
AU  - Danaher S
FAU - Davenport, L
AU  - Davenport L
FAU - Desilets, R
AU  - Desilets R
FAU - Dietz, S
AU  - Dietz S
FAU - Dodson, K
AU  - Dodson K
FAU - Doup, L
AU  - Doup L
FAU - Ferriera, S
AU  - Ferriera S
FAU - Garg, N
AU  - Garg N
FAU - Gluecksmann, A
AU  - Gluecksmann A
FAU - Hart, B
AU  - Hart B
FAU - Haynes, J
AU  - Haynes J
FAU - Haynes, C
AU  - Haynes C
FAU - Heiner, C
AU  - Heiner C
FAU - Hladun, S
AU  - Hladun S
FAU - Hostin, D
AU  - Hostin D
FAU - Houck, J
AU  - Houck J
FAU - Howland, T
AU  - Howland T
FAU - Ibegwam, C
AU  - Ibegwam C
FAU - Johnson, J
AU  - Johnson J
FAU - Kalush, F
AU  - Kalush F
FAU - Kline, L
AU  - Kline L
FAU - Koduru, S
AU  - Koduru S
FAU - Love, A
AU  - Love A
FAU - Mann, F
AU  - Mann F
FAU - May, D
AU  - May D
FAU - McCawley, S
AU  - McCawley S
FAU - McIntosh, T
AU  - McIntosh T
FAU - McMullen, I
AU  - McMullen I
FAU - Moy, M
AU  - Moy M
FAU - Moy, L
AU  - Moy L
FAU - Murphy, B
AU  - Murphy B
FAU - Nelson, K
AU  - Nelson K
FAU - Pfannkoch, C
AU  - Pfannkoch C
FAU - Pratts, E
AU  - Pratts E
FAU - Puri, V
AU  - Puri V
FAU - Qureshi, H
AU  - Qureshi H
FAU - Reardon, M
AU  - Reardon M
FAU - Rodriguez, R
AU  - Rodriguez R
FAU - Rogers, Y H
AU  - Rogers YH
FAU - Romblad, D
AU  - Romblad D
FAU - Ruhfel, B
AU  - Ruhfel B
FAU - Scott, R
AU  - Scott R
FAU - Sitter, C
AU  - Sitter C
FAU - Smallwood, M
AU  - Smallwood M
FAU - Stewart, E
AU  - Stewart E
FAU - Strong, R
AU  - Strong R
FAU - Suh, E
AU  - Suh E
FAU - Thomas, R
AU  - Thomas R
FAU - Tint, N N
AU  - Tint NN
FAU - Tse, S
AU  - Tse S
FAU - Vech, C
AU  - Vech C
FAU - Wang, G
AU  - Wang G
FAU - Wetter, J
AU  - Wetter J
FAU - Williams, S
AU  - Williams S
FAU - Williams, M
AU  - Williams M
FAU - Windsor, S
AU  - Windsor S
FAU - Winn-Deen, E
AU  - Winn-Deen E
FAU - Wolfe, K
AU  - Wolfe K
FAU - Zaveri, J
AU  - Zaveri J
FAU - Zaveri, K
AU  - Zaveri K
FAU - Abril, J F
AU  - Abril JF
FAU - Guigo, R
AU  - Guigo R
FAU - Campbell, M J
AU  - Campbell MJ
FAU - Sjolander, K V
AU  - Sjolander KV
FAU - Karlak, B
AU  - Karlak B
FAU - Kejariwal, A
AU  - Kejariwal A
FAU - Mi, H
AU  - Mi H
FAU - Lazareva, B
AU  - Lazareva B
FAU - Hatton, T
AU  - Hatton T
FAU - Narechania, A
AU  - Narechania A
FAU - Diemer, K
AU  - Diemer K
FAU - Muruganujan, A
AU  - Muruganujan A
FAU - Guo, N
AU  - Guo N
FAU - Sato, S
AU  - Sato S
FAU - Bafna, V
AU  - Bafna V
FAU - Istrail, S
AU  - Istrail S
FAU - Lippert, R
AU  - Lippert R
FAU - Schwartz, R
AU  - Schwartz R
FAU - Walenz, B
AU  - Walenz B
FAU - Yooseph, S
AU  - Yooseph S
FAU - Allen, D
AU  - Allen D
FAU - Basu, A
AU  - Basu A
FAU - Baxendale, J
AU  - Baxendale J
FAU - Blick, L
AU  - Blick L
FAU - Caminha, M
AU  - Caminha M
FAU - Carnes-Stine, J
AU  - Carnes-Stine J
FAU - Caulk, P
AU  - Caulk P
FAU - Chiang, Y H
AU  - Chiang YH
FAU - Coyne, M
AU  - Coyne M
FAU - Dahlke, C
AU  - Dahlke C
FAU - Deslattes Mays, A
AU  - Deslattes Mays A
FAU - Dombroski, M
AU  - Dombroski M
FAU - Donnelly, M
AU  - Donnelly M
FAU - Ely, D
AU  - Ely D
FAU - Esparham, S
AU  - Esparham S
FAU - Fosler, C
AU  - Fosler C
FAU - Gire, H
AU  - Gire H
FAU - Glanowski, S
AU  - Glanowski S
FAU - Glasser, K
AU  - Glasser K
FAU - Glodek, A
AU  - Glodek A
FAU - Gorokhov, M
AU  - Gorokhov M
FAU - Graham, K
AU  - Graham K
FAU - Gropman, B
AU  - Gropman B
FAU - Harris, M
AU  - Harris M
FAU - Heil, J
AU  - Heil J
FAU - Henderson, S
AU  - Henderson S
FAU - Hoover, J
AU  - Hoover J
FAU - Jennings, D
AU  - Jennings D
FAU - Jordan, C
AU  - Jordan C
FAU - Jordan, J
AU  - Jordan J
FAU - Kasha, J
AU  - Kasha J
FAU - Kagan, L
AU  - Kagan L
FAU - Kraft, C
AU  - Kraft C
FAU - Levitsky, A
AU  - Levitsky A
FAU - Lewis, M
AU  - Lewis M
FAU - Liu, X
AU  - Liu X
FAU - Lopez, J
AU  - Lopez J
FAU - Ma, D
AU  - Ma D
FAU - Majoros, W
AU  - Majoros W
FAU - McDaniel, J
AU  - McDaniel J
FAU - Murphy, S
AU  - Murphy S
FAU - Newman, M
AU  - Newman M
FAU - Nguyen, T
AU  - Nguyen T
FAU - Nguyen, N
AU  - Nguyen N
FAU - Nodell, M
AU  - Nodell M
FAU - Pan, S
AU  - Pan S
FAU - Peck, J
AU  - Peck J
FAU - Peterson, M
AU  - Peterson M
FAU - Rowe, W
AU  - Rowe W
FAU - Sanders, R
AU  - Sanders R
FAU - Scott, J
AU  - Scott J
FAU - Simpson, M
AU  - Simpson M
FAU - Smith, T
AU  - Smith T
FAU - Sprague, A
AU  - Sprague A
FAU - Stockwell, T
AU  - Stockwell T
FAU - Turner, R
AU  - Turner R
FAU - Venter, E
AU  - Venter E
FAU - Wang, M
AU  - Wang M
FAU - Wen, M
AU  - Wen M
FAU - Wu, D
AU  - Wu D
FAU - Wu, M
AU  - Wu M
FAU - Xia, A
AU  - Xia A
FAU - Zandieh, A
AU  - Zandieh A
FAU - Zhu, X
AU  - Zhu X
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Science
JT  - Science (New York, N.Y.)
JID - 0404511
RN  - 0 (DNA, Intergenic)
RN  - 0 (Proteins)
RN  - 0 (Retroelements)
SB  - IM
EIN - Science 2001 Jun 5;292(5523):1838
CIN - Proc Natl Acad Sci U S A. 2003 Mar 18;100(6):3022-4; author reply 3025-6. doi: 
      10.1073/pnas.0634129100. PMID: 12631699
MH  - Algorithms
MH  - Animals
MH  - Chromosome Banding
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Bacterial
MH  - Computational Biology
MH  - Consensus Sequence
MH  - CpG Islands
MH  - DNA, Intergenic
MH  - Databases, Factual
MH  - Evolution, Molecular
MH  - Exons
MH  - Female
MH  - Gene Duplication
MH  - Genes
MH  - Genetic Variation
MH  - *Genome, Human
MH  - *Human Genome Project
MH  - Humans
MH  - Introns
MH  - Male
MH  - Phenotype
MH  - Physical Chromosome Mapping
MH  - Polymorphism, Single Nucleotide
MH  - Proteins/genetics/physiology
MH  - Pseudogenes
MH  - Repetitive Sequences, Nucleic Acid
MH  - Retroelements
MH  - *Sequence Analysis, DNA/methods
MH  - Species Specificity
EDAT- 2001/02/22 11:00
MHDA- 2001/03/17 10:01
CRDT- 2001/02/22 11:00
PHST- 2001/02/22 11:00 [pubmed]
PHST- 2001/03/17 10:01 [medline]
PHST- 2001/02/22 11:00 [entrez]
AID - 291/5507/1304 [pii]
AID - 10.1126/science.1058040 [doi]
PST - ppublish
SO  - Science. 2001 Feb 16;291(5507):1304-51. doi: 10.1126/science.1058040.
