title: The sequence of the human genome.
abstract: 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.
authors.affiliation: Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA. humangenome@celera.com
authors.forename: J C
authors.initials: JC
authors.lastname: Venter
authors.forename: M D
authors.initials: MD
authors.lastname: Adams
authors.forename: E W
authors.initials: EW
authors.lastname: Myers
authors.forename: P W
authors.initials: PW
authors.lastname: Li
authors.forename: R J
authors.initials: RJ
authors.lastname: Mural
authors.forename: G G
authors.initials: GG
authors.lastname: Sutton
authors.forename: H O
authors.initials: HO
authors.lastname: Smith
authors.forename: M
authors.initials: M
authors.lastname: Yandell
authors.forename: C A
authors.initials: CA
authors.lastname: Evans
authors.forename: R A
authors.initials: RA
authors.lastname: Holt
authors.forename: J D
authors.initials: JD
authors.lastname: Gocayne
authors.forename: P
authors.initials: P
authors.lastname: Amanatides
authors.forename: R M
authors.initials: RM
authors.lastname: Ballew
authors.forename: D H
authors.initials: DH
authors.lastname: Huson
authors.forename: J R
authors.initials: JR
authors.lastname: Wortman
authors.forename: Q
authors.initials: Q
authors.lastname: Zhang
authors.forename: C D
authors.initials: CD
authors.lastname: Kodira
authors.forename: X H
authors.initials: XH
authors.lastname: Zheng
authors.forename: L
authors.initials: L
authors.lastname: Chen
authors.forename: M
authors.initials: M
authors.lastname: Skupski
authors.forename: G
authors.initials: G
authors.lastname: Subramanian
authors.forename: P D
authors.initials: PD
authors.lastname: Thomas
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.forename: G L
authors.initials: GL
authors.lastname: Gabor Miklos
authors.forename: C
authors.initials: C
authors.lastname: Nelson
authors.forename: S
authors.initials: S
authors.lastname: Broder
authors.forename: A G
authors.initials: AG
authors.lastname: Clark
authors.forename: J
authors.initials: J
authors.lastname: Nadeau
authors.forename: V A
authors.initials: VA
authors.lastname: McKusick
authors.forename: N
authors.initials: N
authors.lastname: Zinder
authors.forename: A J
authors.initials: AJ
authors.lastname: Levine
authors.forename: R J
authors.initials: RJ
authors.lastname: Roberts
authors.forename: M
authors.initials: M
authors.lastname: Simon
authors.forename: C
authors.initials: C
authors.lastname: Slayman
authors.forename: M
authors.initials: M
authors.lastname: Hunkapiller
authors.forename: R
authors.initials: R
authors.lastname: Bolanos
authors.forename: A
authors.initials: A
authors.lastname: Delcher
authors.forename: I
authors.initials: I
authors.lastname: Dew
authors.forename: D
authors.initials: D
authors.lastname: Fasulo
authors.forename: M
authors.initials: M
authors.lastname: Flanigan
authors.forename: L
authors.initials: L
authors.lastname: Florea
authors.forename: A
authors.initials: A
authors.lastname: Halpern
authors.forename: S
authors.initials: S
authors.lastname: Hannenhalli
authors.forename: S
authors.initials: S
authors.lastname: Kravitz
authors.forename: S
authors.initials: S
authors.lastname: Levy
authors.forename: C
authors.initials: C
authors.lastname: Mobarry
authors.forename: K
authors.initials: K
authors.lastname: Reinert
authors.forename: K
authors.initials: K
authors.lastname: Remington
authors.forename: J
authors.initials: J
authors.lastname: Abu-Threideh
authors.forename: E
authors.initials: E
authors.lastname: Beasley
authors.forename: K
authors.initials: K
authors.lastname: Biddick
authors.forename: V
authors.initials: V
authors.lastname: Bonazzi
authors.forename: R
authors.initials: R
authors.lastname: Brandon
authors.forename: M
authors.initials: M
authors.lastname: Cargill
authors.forename: I
authors.initials: I
authors.lastname: Chandramouliswaran
authors.forename: R
authors.initials: R
authors.lastname: Charlab
authors.forename: K
authors.initials: K
authors.lastname: Chaturvedi
authors.forename: Z
authors.initials: Z
authors.lastname: Deng
authors.forename: V
authors.initials: V
authors.lastname: Di Francesco
authors.forename: P
authors.initials: P
authors.lastname: Dunn
authors.forename: K
authors.initials: K
authors.lastname: Eilbeck
authors.forename: C
authors.initials: C
authors.lastname: Evangelista
authors.forename: A E
authors.initials: AE
authors.lastname: Gabrielian
authors.forename: W
authors.initials: W
authors.lastname: Gan
authors.forename: W
authors.initials: W
authors.lastname: Ge
authors.forename: F
authors.initials: F
authors.lastname: Gong
authors.forename: Z
authors.initials: Z
authors.lastname: Gu
authors.forename: P
authors.initials: P
authors.lastname: Guan
authors.forename: T J
authors.initials: TJ
authors.lastname: Heiman
authors.forename: M E
authors.initials: ME
authors.lastname: Higgins
authors.forename: R R
authors.initials: RR
authors.lastname: Ji
authors.forename: Z
authors.initials: Z
authors.lastname: Ke
authors.forename: K A
authors.initials: KA
authors.lastname: Ketchum
authors.forename: Z
authors.initials: Z
authors.lastname: Lai
authors.forename: Y
authors.initials: Y
authors.lastname: Lei
authors.forename: Z
authors.initials: Z
authors.lastname: Li
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.forename: Y
authors.initials: Y
authors.lastname: Liang
authors.forename: X
authors.initials: X
authors.lastname: Lin
authors.forename: F
authors.initials: F
authors.lastname: Lu
authors.forename: G V
authors.initials: GV
authors.lastname: Merkulov
authors.forename: N
authors.initials: N
authors.lastname: Milshina
authors.forename: H M
authors.initials: HM
authors.lastname: Moore
authors.forename: A K
authors.initials: AK
authors.lastname: Naik
authors.forename: V A
authors.initials: VA
authors.lastname: Narayan
authors.forename: B
authors.initials: B
authors.lastname: Neelam
authors.forename: D
authors.initials: D
authors.lastname: Nusskern
authors.forename: D B
authors.initials: DB
authors.lastname: Rusch
authors.forename: S
authors.initials: S
authors.lastname: Salzberg
authors.forename: W
authors.initials: W
authors.lastname: Shao
authors.forename: B
authors.initials: B
authors.lastname: Shue
authors.forename: J
authors.initials: J
authors.lastname: Sun
authors.forename: Z
authors.initials: Z
authors.lastname: Wang
authors.forename: A
authors.initials: A
authors.lastname: Wang
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: J
authors.initials: J
authors.lastname: Wang
authors.forename: M
authors.initials: M
authors.lastname: Wei
authors.forename: R
authors.initials: R
authors.lastname: Wides
authors.forename: C
authors.initials: C
authors.lastname: Xiao
authors.forename: C
authors.initials: C
authors.lastname: Yan
authors.forename: A
authors.initials: A
authors.lastname: Yao
authors.forename: J
authors.initials: J
authors.lastname: Ye
authors.forename: M
authors.initials: M
authors.lastname: Zhan
authors.forename: W
authors.initials: W
authors.lastname: Zhang
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.forename: Q
authors.initials: Q
authors.lastname: Zhao
authors.forename: L
authors.initials: L
authors.lastname: Zheng
authors.forename: F
authors.initials: F
authors.lastname: Zhong
authors.forename: W
authors.initials: W
authors.lastname: Zhong
authors.forename: S
authors.initials: S
authors.lastname: Zhu
authors.forename: S
authors.initials: S
authors.lastname: Zhao
authors.forename: D
authors.initials: D
authors.lastname: Gilbert
authors.forename: S
authors.initials: S
authors.lastname: Baumhueter
authors.forename: G
authors.initials: G
authors.lastname: Spier
authors.forename: C
authors.initials: C
authors.lastname: Carter
authors.forename: A
authors.initials: A
authors.lastname: Cravchik
authors.forename: T
authors.initials: T
authors.lastname: Woodage
authors.forename: F
authors.initials: F
authors.lastname: Ali
authors.forename: H
authors.initials: H
authors.lastname: An
authors.forename: A
authors.initials: A
authors.lastname: Awe
authors.forename: D
authors.initials: D
authors.lastname: Baldwin
authors.forename: H
authors.initials: H
authors.lastname: Baden
authors.forename: M
authors.initials: M
authors.lastname: Barnstead
authors.forename: I
authors.initials: I
authors.lastname: Barrow
authors.forename: K
authors.initials: K
authors.lastname: Beeson
authors.forename: D
authors.initials: D
authors.lastname: Busam
authors.forename: A
authors.initials: A
authors.lastname: Carver
authors.forename: A
authors.initials: A
authors.lastname: Center
authors.forename: M L
authors.initials: ML
authors.lastname: Cheng
authors.forename: L
authors.initials: L
authors.lastname: Curry
authors.forename: S
authors.initials: S
authors.lastname: Danaher
authors.forename: L
authors.initials: L
authors.lastname: Davenport
authors.forename: R
authors.initials: R
authors.lastname: Desilets
authors.forename: S
authors.initials: S
authors.lastname: Dietz
authors.forename: K
authors.initials: K
authors.lastname: Dodson
authors.forename: L
authors.initials: L
authors.lastname: Doup
authors.forename: S
authors.initials: S
authors.lastname: Ferriera
authors.forename: N
authors.initials: N
authors.lastname: Garg
authors.forename: A
authors.initials: A
authors.lastname: Gluecksmann
authors.forename: B
authors.initials: B
authors.lastname: Hart
authors.forename: J
authors.initials: J
authors.lastname: Haynes
authors.forename: C
authors.initials: C
authors.lastname: Haynes
authors.forename: C
authors.initials: C
authors.lastname: Heiner
authors.forename: S
authors.initials: S
authors.lastname: Hladun
authors.forename: D
authors.initials: D
authors.lastname: Hostin
authors.forename: J
authors.initials: J
authors.lastname: Houck
authors.forename: T
authors.initials: T
authors.lastname: Howland
authors.forename: C
authors.initials: C
authors.lastname: Ibegwam
authors.forename: J
authors.initials: J
authors.lastname: Johnson
authors.forename: F
authors.initials: F
authors.lastname: Kalush
authors.forename: L
authors.initials: L
authors.lastname: Kline
authors.forename: S
authors.initials: S
authors.lastname: Koduru
authors.forename: A
authors.initials: A
authors.lastname: Love
authors.forename: F
authors.initials: F
authors.lastname: Mann
authors.forename: D
authors.initials: D
authors.lastname: May
authors.forename: S
authors.initials: S
authors.lastname: McCawley
authors.forename: T
authors.initials: T
authors.lastname: McIntosh
authors.forename: I
authors.initials: I
authors.lastname: McMullen
authors.forename: M
authors.initials: M
authors.lastname: Moy
authors.forename: L
authors.initials: L
authors.lastname: Moy
authors.forename: B
authors.initials: B
authors.lastname: Murphy
authors.forename: K
authors.initials: K
authors.lastname: Nelson
authors.forename: C
authors.initials: C
authors.lastname: Pfannkoch
authors.forename: E
authors.initials: E
authors.lastname: Pratts
authors.forename: V
authors.initials: V
authors.lastname: Puri
authors.forename: H
authors.initials: H
authors.lastname: Qureshi
authors.forename: M
authors.initials: M
authors.lastname: Reardon
authors.forename: R
authors.initials: R
authors.lastname: Rodriguez
authors.forename: Y H
authors.initials: YH
authors.lastname: Rogers
authors.forename: D
authors.initials: D
authors.lastname: Romblad
authors.forename: B
authors.initials: B
authors.lastname: Ruhfel
authors.forename: R
authors.initials: R
authors.lastname: Scott
authors.forename: C
authors.initials: C
authors.lastname: Sitter
authors.forename: M
authors.initials: M
authors.lastname: Smallwood
authors.forename: E
authors.initials: E
authors.lastname: Stewart
authors.forename: R
authors.initials: R
authors.lastname: Strong
authors.forename: E
authors.initials: E
authors.lastname: Suh
authors.forename: R
authors.initials: R
authors.lastname: Thomas
authors.forename: N N
authors.initials: NN
authors.lastname: Tint
authors.forename: S
authors.initials: S
authors.lastname: Tse
authors.forename: C
authors.initials: C
authors.lastname: Vech
authors.forename: G
authors.initials: G
authors.lastname: Wang
authors.forename: J
authors.initials: J
authors.lastname: Wetter
authors.forename: S
authors.initials: S
authors.lastname: Williams
authors.forename: M
authors.initials: M
authors.lastname: Williams
authors.forename: S
authors.initials: S
authors.lastname: Windsor
authors.forename: E
authors.initials: E
authors.lastname: Winn-Deen
authors.forename: K
authors.initials: K
authors.lastname: Wolfe
authors.forename: J
authors.initials: J
authors.lastname: Zaveri
authors.forename: K
authors.initials: K
authors.lastname: Zaveri
authors.forename: J F
authors.initials: JF
authors.lastname: Abril
authors.forename: R
authors.initials: R
authors.lastname: Guigó
authors.forename: M J
authors.initials: MJ
authors.lastname: Campbell
authors.forename: K V
authors.initials: KV
authors.lastname: Sjolander
authors.forename: B
authors.initials: B
authors.lastname: Karlak
authors.forename: A
authors.initials: A
authors.lastname: Kejariwal
authors.forename: H
authors.initials: H
authors.lastname: Mi
authors.forename: B
authors.initials: B
authors.lastname: Lazareva
authors.forename: T
authors.initials: T
authors.lastname: Hatton
authors.forename: A
authors.initials: A
authors.lastname: Narechania
authors.forename: K
authors.initials: K
authors.lastname: Diemer
authors.forename: A
authors.initials: A
authors.lastname: Muruganujan
authors.forename: N
authors.initials: N
authors.lastname: Guo
authors.forename: S
authors.initials: S
authors.lastname: Sato
authors.forename: V
authors.initials: V
authors.lastname: Bafna
authors.forename: S
authors.initials: S
authors.lastname: Istrail
authors.forename: R
authors.initials: R
authors.lastname: Lippert
authors.forename: R
authors.initials: R
authors.lastname: Schwartz
authors.forename: B
authors.initials: B
authors.lastname: Walenz
authors.forename: S
authors.initials: S
authors.lastname: Yooseph
authors.forename: D
authors.initials: D
authors.lastname: Allen
authors.forename: A
authors.initials: A
authors.lastname: Basu
authors.forename: J
authors.initials: J
authors.lastname: Baxendale
authors.forename: L
authors.initials: L
authors.lastname: Blick
authors.forename: M
authors.initials: M
authors.lastname: Caminha
authors.forename: J
authors.initials: J
authors.lastname: Carnes-Stine
authors.forename: P
authors.initials: P
authors.lastname: Caulk
authors.forename: Y H
authors.initials: YH
authors.lastname: Chiang
authors.forename: M
authors.initials: M
authors.lastname: Coyne
authors.forename: C
authors.initials: C
authors.lastname: Dahlke
authors.forename: A
authors.initials: A
authors.lastname: Deslattes Mays
authors.forename: M
authors.initials: M
authors.lastname: Dombroski
authors.forename: M
authors.initials: M
authors.lastname: Donnelly
authors.forename: D
authors.initials: D
authors.lastname: Ely
authors.forename: S
authors.initials: S
authors.lastname: Esparham
authors.forename: C
authors.initials: C
authors.lastname: Fosler
authors.forename: H
authors.initials: H
authors.lastname: Gire
authors.forename: S
authors.initials: S
authors.lastname: Glanowski
authors.forename: K
authors.initials: K
authors.lastname: Glasser
authors.forename: A
authors.initials: A
authors.lastname: Glodek
authors.forename: M
authors.initials: M
authors.lastname: Gorokhov
authors.forename: K
authors.initials: K
authors.lastname: Graham
authors.forename: B
authors.initials: B
authors.lastname: Gropman
authors.forename: M
authors.initials: M
authors.lastname: Harris
authors.forename: J
authors.initials: J
authors.lastname: Heil
authors.forename: S
authors.initials: S
authors.lastname: Henderson
authors.forename: J
authors.initials: J
authors.lastname: Hoover
authors.forename: D
authors.initials: D
authors.lastname: Jennings
authors.forename: C
authors.initials: C
authors.lastname: Jordan
authors.forename: J
authors.initials: J
authors.lastname: Jordan
authors.forename: J
authors.initials: J
authors.lastname: Kasha
authors.forename: L
authors.initials: L
authors.lastname: Kagan
authors.forename: C
authors.initials: C
authors.lastname: Kraft
authors.forename: A
authors.initials: A
authors.lastname: Levitsky
authors.forename: M
authors.initials: M
authors.lastname: Lewis
authors.forename: X
authors.initials: X
authors.lastname: Liu
authors.forename: J
authors.initials: J
authors.lastname: Lopez
authors.forename: D
authors.initials: D
authors.lastname: Ma
authors.forename: W
authors.initials: W
authors.lastname: Majoros
authors.forename: J
authors.initials: J
authors.lastname: McDaniel
authors.forename: S
authors.initials: S
authors.lastname: Murphy
authors.forename: M
authors.initials: M
authors.lastname: Newman
authors.forename: T
authors.initials: T
authors.lastname: Nguyen
authors.forename: N
authors.initials: N
authors.lastname: Nguyen
authors.forename: M
authors.initials: M
authors.lastname: Nodell
authors.forename: S
authors.initials: S
authors.lastname: Pan
authors.forename: J
authors.initials: J
authors.lastname: Peck
authors.forename: M
authors.initials: M
authors.lastname: Peterson
authors.forename: W
authors.initials: W
authors.lastname: Rowe
authors.forename: R
authors.initials: R
authors.lastname: Sanders
authors.forename: J
authors.initials: J
authors.lastname: Scott
authors.forename: M
authors.initials: M
authors.lastname: Simpson
authors.forename: T
authors.initials: T
authors.lastname: Smith
authors.forename: A
authors.initials: A
authors.lastname: Sprague
authors.forename: T
authors.initials: T
authors.lastname: Stockwell
authors.forename: R
authors.initials: R
authors.lastname: Turner
authors.forename: E
authors.initials: E
authors.lastname: Venter
authors.forename: M
authors.initials: M
authors.lastname: Wang
authors.forename: M
authors.initials: M
authors.lastname: Wen
authors.forename: D
authors.initials: D
authors.lastname: Wu
authors.forename: M
authors.initials: M
authors.lastname: Wu
authors.forename: A
authors.initials: A
authors.lastname: Xia
authors.forename: A
authors.initials: A
authors.lastname: Zandieh
authors.forename: X
authors.initials: X
authors.lastname: Zhu
mesh_terms: D000465:Algorithms; D000818:Animals; D002871:Chromosome Banding; D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial; D019295:Computational Biology; D016384:Consensus Sequence; D018899:CpG Islands; D021901:DNA, Intergenic; D016208:Databases, Factual; D019143:Evolution, Molecular; D005091:Exons; D005260:Female; D020440:Gene Duplication; D005796:Genes; D014644:Genetic Variation; D015894:Genome, Human; D016045:Human Genome Project; D006801:Humans; D007438:Introns; D008297:Male; D010641:Phenotype; D020161:Physical Chromosome Mapping; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics / Q000502:physiology; D011544:Pseudogenes; D012091:Repetitive Sequences, Nucleic Acid; D018626:Retroelements; D017422:Sequence Analysis, DNA / Q000379:methods; D013045:Species Specificity
chemical_list: D021901:DNA, Intergenic; D011506:Proteins; D018626:Retroelements