| Title: |
The sequence of the Human Genome |
| Authors: |
Venter, J. Craig; Adams, Mark; Myers, Eugene; Li, Peter; Mural, Richard; Sutton, Granger; Smith, Hamilton; Yandell, Mark; Evans, Cheryl; Holt, Robert; Gocayne, Jeannine; Amanatides, Peter; Ballew, Richard; Huson, Daniel; Wortman, Jennifer Russo; Zhang, Qing; Kodira, Chinnappa; Zheng, Xiangqun; Chen, Lin; Skupski, Marian; Subramanian, Gangadharan; Thomas, Paul; Zhang, Jinghui; Gabor Miklos, George; Nelson, Catherine; Broder, Samuel; Clark, Andrew; Nadeau, Joe; Mckusick, Victor; Zinder, Norton; Levine, Arnold; Roberts, Richard; Simon, Mel; Slayman, Carolyn; Hunkapiller, Michael; Bolanos, Randall; Delcher, Arthur; Dew, Ian; Fasulo, Daniel; Flanigan, Michael; Florea, Liliana; Halpern, Aaron; Hannenhalli, Sridhar; Kravitz, Saul; Levy, Samuel; Mobarry, Clark; Reinert, Knut; Remington, Karin; Abu-Threideh, Jane; Beasley, Ellen; Biddick, Kendra; Bonazzi, Vivien; Brandon, Rhonda; Cargill, Michele; Chandramouliswaran, Ishwar; Charlab, Rosane; Chaturvedi, Kabir; Deng, Zuoming; Francesco, Valentina Di; Dunn, Patrick; Eilbeck, Karen; Evangelista, Carlos; Gabrielian, Andrei; Gan, Weiniu; Ge, Wangmao; Gong, Fangcheng; Gu, Zhiping; Guan, Ping; Heiman, Thomas; Higgins, Maureen; Ji, Rui-Ru; Ke, Zhaoxi; Ketchum, Karen; Lai, Zhongwu; Lei, Yiding; Li, Zhenya; Li, Jiayin; Liang, Yong; Lin, Xiaoying; Lu, Fu; Merkulov, Gennady; Milshina, Natalia; Moore, Helen; Naik, Ashwinikumar; Narayan, Vaibhav; Neelam, Beena; Nusskern, Deborah; Rusch, Douglas; Salzberg, Steven; Shao, Wei; Shue, Bixiong; Sun, Jingtao; Wang, Zhen Yuan; Wang, Aihui; Wang, Xin; Wang, Jian; Wei, Ming-Hui; Wides, Ron; Xiao, Chunlin; Yan, Chunhua; Yao, Alison; Ye, Jane; Zhan, Ming; Zhang, Weiqing; Zhang, Hongyu; Zhao, Qi; Zheng, Liansheng; Zhong, Fei; Zhong, Wenyan; Zhu, Shiaoping; Zhao, Shaying; Gilbert, Dennis; Baumhueter, Suzanna; Spier, Gene; Carter, Christine; Cravchik, Anibal; Woodage, Trevor; Ali, Feroze; An, Huijin; Awe, Aderonke; Baldwin, Danita; Baden, Holly; Barnstead, Mary; Barrow, Ian; Beeson, Karen; Busam, Dana; Carver, Amy; Center, Angela; Cheng, Ming Lai; Curry, Liz; Danaher, Steve; Davenport, Lionel; Desilets, Raymond; Dietz, Susanne; Dodson, Kristina; Doup, Lisa; Ferriera, Steven; Garg, Neha; Gluecksmann, Andres; Hart, Brit; Haynes, Jason; Haynes, Charles; Heiner, Cheryl; Hladun, Suzanne; Hostin, Damon; Houck, Jarrett; Howland, Timothy; Ibegwam, Chinyere; Johnson, Jeffery; Kalush, Francis; Kline, Lesley; Koduru, Shashi; Love, Amy; Mann, Felecia; May, David; Mccawley, Steven; Mcintosh, Tina; Mcmullen, Ivy; Moy, Mee; Moy, Linda; Murphy, Brian; Nelson, Keith; Pfannkoch, Cynthia; Pratts, Eric; Puri, Vinita; Qureshi, Hina; Reardon, Matthew; Rodriguez, Robert; Rogers, Yu-Hui; Romblad, Deanna; Ruhfel, Bob; Scott, Richard; Sitter, Cynthia; Smallwood, Michelle; Stewart, Erin; Strong, Renee; Suh, Ellen; Thomas, Reginald; Tint, Ni Ni; Tse, Sukyee; Vech, Claire; Wang, Gary; Wetter, Jeremy; Williams, Sherita; Williams, Monica; Windsor, Sandra; Winn-Deen, Emily; Wolfe, Keriellen; Zaveri, Jayshree; Zaveri, Karena; Abril, Josep; Guigó, Roderic; Campbell, Michael; Sjolander, Kimmen; Karlak, Brian; Kejariwal, Anish; Mi, Huaiyu; Lazareva, Betty; Hatton, Thomas; Narechania, Apurva; Diemer, Karen; Muruganujan, Anushya; Guo, Nan; Sato, Shinji; Bafna, Vineet; Istrail, Sorin; Lippert, Ross; Schwartz, Russell; Walenz, Brian; Yooseph, Shibu; Allen, David; Basu, Anand; Baxendale, James; Blick, Louis; Caminha, Marcelo; Carnes-Stine, John; Caulk, Parris; Chiang, Yen-Hui; Coyne, My; Dahlke, Carl; Mays, Anne Deslattes; Dombroski, Maria; Donnelly, Michael; Ely, Dale; Esparham, Shiva; Fosler, Carl; Gire, Harold; Glanowski, Stephen; Glasser, Kenneth; Glodek, Anna; Gorokhov, Mark; Graham, Ken; Gropman, Barry; Harris, Michael; Heil, Jeremy; Henderson, Scott; Hoover, Jeffrey; Jennings, Donald; Jordan, Catherine; Jordan, James; Kasha, John; Kagan, Leonid; Kraft, Cheryl; Levitsky, Alexander; Lewis, Mark; Liu, Xiangjun; Lopez, John; Ma, Daniel; Majoros, William; Mcdaniel, Joe; Murphy, Sean; Newman, Matthew; Nguyen, Trung; Nguyen, Ngoc; Nodell, Marc; Pan, Sue; Peck, Jim; Peterson, Marshall; Rowe, William; Sanders, Robert; Scott, John; Simpson, Michael; Smith, Thomas; Sprague, Arlan; Stockwell, Timothy; Turner, Russell; Venter, Eli; Wang, Mei; Wen, Meiyuan; Wu, David; Wu, Mitchell; Xia, Ashley; Zandieh, Ali; Zhu, Xiaohong |
| Contributors: |
The J. Craig Venter Institute (JCVI); The J. Craig Venter Institute; J. Craig Venter Institute; Max-Planck-Institut für Astronomie = Max Planck Institute for Astronomy (MPIA); Max-Planck-Gesellschaft; Hong Kong Observatory, Hong Kong, China; J. Craig Venter Institute La Jolla, USA (JCVI); Eccles Institute Human Genetic; Utah State University (USU); Canada's Michael Smith Genome Sciences Centre (CMSGSC); BC Cancer Agency (BCCRC); Institut Wilhelm Schickard; Eberhard Karls Universität Tübingen = University of Tübingen; Materials and Process Simulation Center; Beckman Institute-California Institute of Technology (CALTECH); Broad Institute of MIT and Harvard (BROAD INSTITUTE); Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston; Laboratoire de l'Informatique du Parallélisme (LIP); École normale supérieure de Lyon (ENS de Lyon); Université de Lyon-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL); Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-Centre National de la Recherche Scientifique (CNRS) |
| Source: |
ISSN: 0036-8075. |
| Publisher Information: |
CCSD; American Association for the Advancement of Science (AAAS) |
| Publication Year: |
2001 |
| Collection: |
HAL Lyon 1 (University Claude Bernard Lyon 1) |
| Subject Terms: |
[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]; [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM] |
| Description: |
International audience ; 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 ∼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 ... |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1126/science.1058040 |
| Availability: |
https://hal.science/hal-04816009; https://doi.org/10.1126/science.1058040 |
| Accession Number: |
edsbas.823C0100 |
| Database: |
BASE |