The Sequence of the Human Genome

• DOI: 10.1126/science.1058040
• Publication Date: 2002-07-27T05:48:21Z
• Authors: J. Craig Venter; Mark D. Adams; Eugene W. Myers; Peter W. Li; Richard J. Mural; Granger G. Sutton; Hamilton O. Smith; Mark Yandell; Cheryl A. Evans; Robert A. Holt; Jeannine D. Gocayne; Peter Amanatides; Richard M. Ballew; Daniel H. Huson; Jennifer Russo Wo...; Qing Zhang; Chinnappa D. Kodira; Xiangqun H. Zheng; Lin Chen; Marian Skupski; Gangadharan Subra...; Paul D. Thomas; Jinghui Zhang; George L. Gabor M...; Catherine Nelson; Samuel Broder; Andrew G. Clark; Joe Nadeau; Victor A. McKusick; Norton Zinder; Arnold J. Levine; Richard J. Roberts; Mel Simon; Carolyn Slayman; Michael Hunkapiller; Randall Bolanos; Arthur Delcher; Ian Dew; Daniel Fasulo; Michael Flanigan; Liliana Florea; Aaron Halpern; Sridhar Hannenhalli; Saul Kravitz; Samuel Levy; Clark Mobarry; Knut Reinert; Karin Remington; Jane Abu-Threideh; Ellen Beasley; Kendra Biddick; Vivien Bonazzi; Rhonda Brandon; Michele Cargill; Ishwar Chandramou...; Rosane Charlab; Kabir Chaturvedi; Zuoming Deng; Valentina Di Fran...; Patrick Dunn; Karen Eilbeck; Carlos Evangelista; Andrei E. Gabrielian; Weiniu Gan; Wangmao Ge; Fangcheng Gong; Zhiping Gu; Ping Guan; Thomas J. Heiman; Maureen E. Higgins; Rui-Ru Ji; Zhaoxi Ke; Karen A. Ketchum; Zhongwu Lai; Yiding Lei; Zhenya Li; Jiayin Li; Yong Liang; Xiaoying Lin; Fu Lu; Gennady V. Merkulov; Natalia Milshina; Helen M. Moore; Ashwinikumar K Naik; Vaibhav A. Narayan; Beena Neelam; Deborah Nusskern; Douglas B. Rusch; Steven Salzberg; Wei Shao; Bixiong Shue; Jingtao Sun; Zhen Yuan Wang; Aihui Wang; Xin Wang; Jian Wang; Ming-Hui Wei; Ron Wides; Chunlin Xiao; Chunhua Yan; Alison Yao; Jane Ye; Ming Zhan; Weiqing Zhang; Hongyu Zhang; Qi Zhao; Liansheng Zheng; Fei Zhong; Wenyan Zhong; Shiaoping C. Zhu; Shaying Zhao; Dennis Gilbert; Suzanna Baumhueter; Gene Spier; Christine Carter; Anibal Cravchik; Trevor Woodage; Feroze Ali; Huijin An; Aderonke Awe; Danita Baldwin; Holly Baden; Mary Barnstead; Ian Barrow; Karen Beeson; Dana Busam; Amy Carver; Angela Center; Ming Lai Cheng; Liz Curry; Steve Danaher; Lionel Davenport; Raymond Desilets; Susanne Dietz; Kristina Dodson; Lisa Doup; Steven Ferriera; Neha Garg; Andres Gluecksmann; Brit Hart; Jason Haynes; Charles Haynes; Cheryl Heiner; Suzanne Hladun; Damon Hostin; Jarrett Houck; Timothy Howland; Chinyere Ibegwam; Jeffery Johnson; Francis Kalush; Lesley Kline; Shashi Koduru; Amy Love; Felecia Mann; David May; Steven McCawley; Tina McIntosh; Ivy McMullen; Mee Moy; Linda Moy; Brian Murphy; Keith Nelson; Cynthia Pfannkoch; Eric Pratts; Vinita Puri; Hina Qureshi; Matthew Reardon; Robert Rodriguez; Yu-Hui Rogers; Deanna Romblad; Bob Ruhfel; Richard Scott; Cynthia Sitter; Michelle Smallwood; Erin Stewart; Renee Strong; Ellen Suh; Reginald Thomas; Ni Ni Tint; Sukyee Tse; Claire Vech; Gary Wang; Jeremy Wetter; Sherita Williams; Monica Williams; Sandra Windsor; Emily Winn-Deen; Keriellen Wolfe; Jayshree Zaveri; Karena Zaveri; Josep F. Abril; Roderic Guigó; Michael J. Campbell; Kimmen V. Sjolander; Brian Karlak; Anish Kejariwal; Huaiyu Mi; Betty Lazareva; Thomas Hatton; Apurva Narechania; Karen Diemer; Anushya Muruganujan; Nan Guo; Shinji Sato; Vineet Bafna; Sorin Istrail; Ross Lippert; Russell Schwartz; Brian Walenz; Shibu Yooseph; David Allen; Anand Basu; James Baxendale; Louis Blick; Marcelo Caminha; John Carnes-Stine; Parris Caulk; Yen-Hui Chiang; My Coyne; Carl Dahlke; Anne Deslattes Mays; Maria Dombroski; Michael Donnelly; Dale Ely; Shiva Esparham; Carl Fosler; Harold Gire; Stephen Glanowski; Kenneth Glasser; Anna Glodek; Mark Gorokhov; Ken Graham; Barry Gropman; Michael Harris; Jeremy Heil; Scott Henderson; Jeffrey Hoover; Donald Jennings; Catherine Jordan; James Jordan; John Kasha; Leonid Kagan; Cheryl Kraft; Alexander Levitsky; Mark Lewis; Xiangjun Liu; John Lopez; Daniel Ma; William Majoros; Joe McDaniel; Sean Murphy; Matthew Newman; Trung Nguyen; Ngoc Nguyen; Marc Nodell; Sue Pan; Jim Peck; Marshall Peterson; William Rowe; Robert Sanders; John Scott; Michael Simpson; Thomas Smith; Arlan Sprague; Timothy Stockwell; Russell Turner; Eli Venter; Mei Wang; Meiyuan Wen; David Wu; Mitchell Wu; Ashley Xia; Ali Zandieh; Xiaohong Zhu
• Keywords: Sequence assembly; Hybrid genome assembly

A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion human genome was generated by whole-genome shotgun sequencing method. The 14.8-billion bp DNA over 9 months from 27,271,853 high-quality reads (5.11-fold coverage genome) both ends plasmid clones made five individuals. Two assembly strategies—a and a regional chromosome assembly—were used, each combining data Celera publicly funded effort. public were shredded into 550-bp segments to create 2.9-fold those regions that had been sequenced, without including biases inherent in cloning procedure used group. This brought effective assemblies eightfold, reducing number size gaps final what would be obtained with 5.11-fold coverage. two strategies yielded very similar results largely agree independent mapping data. effectively cover chromosomes. More than 90% is scaffold 100,000 or more, 25% scaffolds 10 million larger. Analysis revealed 26,588 protein-encoding transcripts for which there strong corroborating evidence an additional ∼12,000 computationally derived genes mouse matches other weak supporting evidence. Although gene-dense clusters are obvious, almost half dispersed low G+C separated large tracts apparently noncoding sequence. Only 1.1% spanned exons, whereas 24% introns, 75% being intergenic DNA. Duplications segmental blocks, ranging up chromosomal lengths, abundant throughout reveal complex evolutionary history. Comparative genomic analysis indicates vertebrate expansions associated neuronal function, tissue-specific developmental regulation, hemostasis immune systems. comparisons between provided locations 2.1 single-nucleotide polymorphisms (SNPs). random haploid genomes differed at rate 1 per 1250 on average, but marked heterogeneity level polymorphism across genome. Less 1% all SNPs resulted variation proteins, task determining have functional consequences remains open challenge.