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Comparative Study
. 2003 Mar 18;100(6):3022-4; author reply 3025-6.
doi: 10.1073/pnas.0634129100. Epub 2003 Mar 11.

More on the sequencing of the human genome

Affiliations
Comparative Study

More on the sequencing of the human genome

Robert H Waterston et al. Proc Natl Acad Sci U S A. .
No abstract available

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Figures

Figure 1
Figure 1
Uses of the HGP genome assemblies in Celera genome assemblies and impact on assembly. (A) HGP data were used in three ways. (i) Perfect tiling. HGP's contigs were decomposed (“shredded”) into perfect tiling paths of uniformly overlapping “faux” reads with no gaps (3). (ii) Gap filling. Gaps between linked contigs (gray) in assemblies were filled by directly taking sequence from unshredded assembled HGP BACs (stippled). (iii) Compartmentalized assembly. The main assembly in ref. , used for all biological analyses, was obtained by first matching the WGS reads of Celera to small compartments corresponding to overlapping HGP BACs and then assembling each compartment locally. (B) Average N50 contig lengths for reconstructing a perfect tiling from either a long (>1 megabase) or typical (length distribution as in the HGP assembly) contig. The four lines correspond to assembly of the perfect tiling reads alone or with WGS reads (>100×) and either with or without quality scores. The third line (from ref. 5) has short contigs because lack of quality scores limits overlap detection. The fourth line shows that these limitations are substantially overcome by gap filling (see Gap Filling and Compartmentalized Assembly Extend the Reconstruction).

Comment in

Comment on

  • The sequence of the human genome.
    Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, A… See abstract for full author list ➔ Venter JC, et al. Science. 2001 Feb 16;291(5507):1304-51. doi: 10.1126/science.1058040. Science. 2001. PMID: 11181995

References

    1. International Human Genome Sequencing Consortium. Nature. 2001;409:860–921. - PubMed
    1. Venter J C, Adams M D, Myers E W, Li P W, Mural R J, Sutton G G, Smith H O, Yandell M, Evans C A, Holt R A, et al. Science. 2001;291:1304–1351. - PubMed
    1. Waterston R H, Lander E S, Sulston J E. Proc Natl Acad Sci USA. 2002;99:3712–3716. - PMC - PubMed
    1. Green P. Proc Natl Acad Sci USA. 2002;99:4143–4144. - PMC - PubMed
    1. Myers E W, Sutton G G, Smith H O, Adams M D, Venter J C. Proc Natl Acad Sci USA. 2002;99:4145–4146. - PMC - PubMed

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