| Authors: |
J. Craig Venter
and Mark D. Adams
and Eugene W. Myers
and Peter W. Li
and Richard J. Mural
and Granger G. Sutton
and Hamilton O. Smith
and Mark Yandell
and Cheryl A. Evans
and Robert A. Holt
and Jeannine D. Gocayne
and Peter Amanatides
and Richard M. Ballew
and Daniel H. Huson
and Jennifer Russo Wortman
and Qing Zhang
and Chinnappa D. Kodira
and Xiangqun H. Zheng
and Lin Chen
and Marian Skupski
and Gangadharan Subramanian
and Paul D. Thomas
and Jinghui Zhang
and George L. Gabor Miklos
and Catherine Nelson
and Samuel Broder
and Andrew G. Clark
and Joe Nadeau
and Victor A. McKusick
and Norton Zinder
and Arnold J. Levine
and Richard J. Roberts
and Mel Simon
and Carolyn Slayman
and Michael Hunkapiller
and Randall Bolanos
and Arthur Delcher
and Ian Dew
and Daniel Fasulo
and Michael Flanigan
and Liliana Florea
and Aaron Halpern
and Sridhar Hannenhalli
and Saul Kravitz
and Samuel Levy
and Clark Mobarry
and Knut Reinert
and Karin Remington
and Jane Abu-Threideh
and Ellen Beasley
and Kendra Biddick
and Vivien Bonazzi
and Rhonda Brandon
and Michele Cargill
and Ishwar Chandramouliswaran
and Rosane Charlab
and Kabir Chaturvedi
and Zuoming Deng
and Valentina Di Francesco
and Patrick Dunn
and Karen Eilbeck
and Carlos Evangelista
and Andrei E. Gabrielian
and Weiniu Gan
and Wangmao Ge
and Fangcheng Gong
and Zhiping Gu
and Ping Guan
and Thomas J. Heiman
and Maureen E. Higgins
and Rui-Ru Ji
and Zhaoxi Ke
and Karen A. Ketchum
and Zhongwu Lai
and Yiding Lei
and Zhenya Li
and Jiayin Li
and Yong Liang
and Xiaoying Lin
and Fu Lu
and Gennady V. Merkulov
and Natalia Milshina
and Helen M. Moore
and Ashwinikumar K Naik
and Vaibhav A. Narayan
and Beena Neelam
and Deborah Nusskern
and Douglas B. Rusch
and Steven Salzberg
and Wei Shao
and Bixiong Shue
and Jingtao Sun
and Zhen Yuan Wang
and Aihui Wang
and Xin Wang
and Jian Wang
and Ming-Hui Wei
and Ron Wides
and Chunlin Xiao
and Chunhua Yan
and Alison Yao
and Jane Ye
and Ming Zhan
and Weiqing Zhang
and Hongyu Zhang
and Qi Zhao
and Liansheng Zheng
and Fei Zhong
and Wenyan Zhong
and Shiaoping C. Zhu
and Shaying Zhao
and Dennis Gilbert
and Suzanna Baumhueter
and Gene Spier
and Christine Carter
and Anibal Cravchik
and Trevor Woodage
and Feroze Ali
and Huijin An
and Aderonke Awe
and Danita Baldwin
and Holly Baden
and Mary Barnstead
and Ian Barrow
and Karen Beeson
and Dana Busam
and Amy Carver
and Angela Center
and Ming Lai Cheng
and Liz Curry
and Steve Danaher
and Lionel Davenport
and Raymond Desilets
and Susanne Dietz
and Kristina Dodson
and Lisa Doup
and Steven Ferriera
and Neha Garg
and Andres Gluecksmann
and Brit Hart
and Jason Haynes
and Charles Haynes
and Cheryl Heiner
and Suzanne Hladun
and Damon Hostin
and Jarrett Houck
and Timothy Howland
and Chinyere Ibegwam
and Jeffery Johnson
and Francis Kalush
and Lesley Kline
and Shashi Koduru
and Amy Love
and Felecia Mann
and David May
and Steven McCawley
and Tina McIntosh
and Ivy McMullen
and Mee Moy
and Linda Moy
and Brian Murphy
and Keith Nelson
and Cynthia Pfannkoch
and Eric Pratts
and Vinita Puri
and Hina Qureshi
and Matthew Reardon
and Robert Rodriguez
and Yu-Hui Rogers
and Deanna Romblad
and Bob Ruhfel
and Richard Scott
and Cynthia Sitter
and Michelle Smallwood
and Erin Stewart
and Renee Strong
and Ellen Suh
and Reginald Thomas
and Ni Ni Tint
and Sukyee Tse
and Claire Vech
and Gary Wang
and Jeremy Wetter
and Sherita Williams
and Monica Williams
and Sandra Windsor
and Emily Winn-Deen
and Keriellen Wolfe
and Jayshree Zaveri
and Karena Zaveri
and Josep F. Abril
and Roderic Guigo
and Michael J. Campbell
and Kimmen V. Sjolande
and Brian Karlak
and Anish Kejariwal
and Huaiyu Mi
and Betty Lazareva
and Thomas Hatton
and Apurva Narechania
and Karen Diemer
and Anushya Muruganujan
and Nan Guo
and Shinji Sato
and Vineet Bafna
and Sorin Istrail
and Ross Lippert
and Russell Schwartz
and Brian Walenz
and Shibu Yooseph
and David Allen
and Anand Basu
and James Baxendale
and Louis Blick
and Marcelo Caminha
and John Carnes-Stine
and Parris Caulk
and Yen-Hui Chiang
and My Coyne
and Carl Dahlke
and Anne Deslattes Mays
and Maria Dombroski
and Michael Donnelly
and Dale Ely
and Shiva Esparham
and Carl Fosler
and Harold Gire
and Stephen Glanowski
and Kenneth Glasser
and Anna Glodek
and Mark Gorokhov
and Ken Graham
and Barry Gropman
and Michael Harris
and Jeremy Heil
and Scott Henderson
and Jeffrey Hoover
and Donald Jennings
and Catherine Jordan
and James Jordan
and John Kasha
and Leonid Kagan
and Cheryl Kraft
and Alexander Levitsky
and Mark Lewis
and Xiangjun Liu
and John Lopez
and Daniel Ma
and William Majoros
and Joe McDaniel
and Sean Murphy
and Matthew Newman
and Trung Nguyen
and Ngoc Nguyen
and Marc Nodell
and Sue Pan
and Jim Peck
and Marshall Peterson
and William Rowe
and Robert Sanders
and John Scott
and Michael Simpson
and Thomas Smith
and Arlan Sprague
and Timothy Stockwell
and Russell Turner
and Eli Venter
and Mei Wang
and Meiyuan Wen
and David Wu
and Mitchell Wu
and Ashley Xia
and Ali Zandieh
and Xiaohong Zhu
|
| URL: |
http://www.sciencemag.org/cgi/content/abstract/291/5507/1304?ijkey=I/Cyc3kWkJJbA |
| Tags: |
imported
|
| 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 ~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. |
@article{Venter:2001:full,
title = {{The sequence of the human genome}},
author = {J. Craig Venter and Mark D. Adams and Eugene W. Myers and Peter W. Li and Richard J. Mural and Granger G. Sutton and Hamilton O. Smith and Mark Yandell and Cheryl A. Evans and Robert A. Holt and Jeannine D. Gocayne and Peter Amanatides and Richard M. Ballew and Daniel H. Huson and Jennifer Russo Wortman and Qing Zhang and Chinnappa D. Kodira and Xiangqun H. Zheng and Lin Chen and Marian Skupski and Gangadharan Subramanian and Paul D. Thomas and Jinghui Zhang and George L. Gabor Miklos and Catherine Nelson and Samuel Broder and Andrew G. Clark and Joe Nadeau and Victor A. McKusick and Norton Zinder and Arnold J. Levine and Richard J. Roberts and Mel Simon and Carolyn Slayman and Michael Hunkapiller and Randall Bolanos and Arthur Delcher and Ian Dew and Daniel Fasulo and Michael Flanigan and Liliana Florea and Aaron Halpern and Sridhar Hannenhalli and Saul Kravitz and Samuel Levy and Clark Mobarry and Knut Reinert and Karin Remington and Jane Abu-Threideh and Ellen Beasley and Kendra Biddick and Vivien Bonazzi and Rhonda Brandon and Michele Cargill and Ishwar Chandramouliswaran and Rosane Charlab and Kabir Chaturvedi and Zuoming Deng and Valentina Di Francesco and Patrick Dunn and Karen Eilbeck and Carlos Evangelista and Andrei E. Gabrielian and Weiniu Gan and Wangmao Ge and Fangcheng Gong and Zhiping Gu and Ping Guan and Thomas J. Heiman and Maureen E. Higgins and Rui-Ru Ji and Zhaoxi Ke and Karen A. Ketchum and Zhongwu Lai and Yiding Lei and Zhenya Li and Jiayin Li and Yong Liang and Xiaoying Lin and Fu Lu and Gennady V. Merkulov and Natalia Milshina and Helen M. Moore and Ashwinikumar K Naik and Vaibhav A. Narayan and Beena Neelam and Deborah Nusskern and Douglas B. Rusch and Steven Salzberg and Wei Shao and Bixiong Shue and Jingtao Sun and Zhen Yuan Wang and Aihui Wang and Xin Wang and Jian Wang and Ming-Hui Wei and Ron Wides and Chunlin Xiao and Chunhua Yan and Alison Yao and Jane Ye and Ming Zhan and Weiqing Zhang and Hongyu Zhang and Qi Zhao and Liansheng Zheng and Fei Zhong and Wenyan Zhong and Shiaoping C. Zhu and Shaying Zhao and Dennis Gilbert and Suzanna Baumhueter and Gene Spier and Christine Carter and Anibal Cravchik and Trevor Woodage and Feroze Ali and Huijin An and Aderonke Awe and Danita Baldwin and Holly Baden and Mary Barnstead and Ian Barrow and Karen Beeson and Dana Busam and Amy Carver and Angela Center and Ming Lai Cheng and Liz Curry and Steve Danaher and Lionel Davenport and Raymond Desilets and Susanne Dietz and Kristina Dodson and Lisa Doup and Steven Ferriera and Neha Garg and Andres Gluecksmann and Brit Hart and Jason Haynes and Charles Haynes and Cheryl Heiner and Suzanne Hladun and Damon Hostin and Jarrett Houck and Timothy Howland and Chinyere Ibegwam and Jeffery Johnson and Francis Kalush and Lesley Kline and Shashi Koduru and Amy Love and Felecia Mann and David May and Steven McCawley and Tina McIntosh and Ivy McMullen and Mee Moy and Linda Moy and Brian Murphy and Keith Nelson and Cynthia Pfannkoch and Eric Pratts and Vinita Puri and Hina Qureshi and Matthew Reardon and Robert Rodriguez and Yu-Hui Rogers and Deanna Romblad and Bob Ruhfel and Richard Scott and Cynthia Sitter and Michelle Smallwood and Erin Stewart and Renee Strong and Ellen Suh and Reginald Thomas and Ni Ni Tint and Sukyee Tse and Claire Vech and Gary Wang and Jeremy Wetter and Sherita Williams and Monica Williams and Sandra Windsor and Emily Winn-Deen and Keriellen Wolfe and Jayshree Zaveri and Karena Zaveri and Josep F. Abril and Roderic Guigo and Michael J. Campbell and Kimmen V. Sjolande and Brian Karlak and Anish Kejariwal and Huaiyu Mi and Betty Lazareva and Thomas Hatton and Apurva Narechania and Karen Diemer and Anushya Muruganujan and Nan Guo and Shinji Sato and Vineet Bafna and Sorin Istrail and Ross Lippert and Russell Schwartz and Brian Walenz and Shibu Yooseph and David Allen and Anand Basu and James Baxendale and Louis Blick and Marcelo Caminha and John Carnes-Stine and Parris Caulk and Yen-Hui Chiang and My Coyne and Carl Dahlke and Anne Deslattes Mays and Maria Dombroski and Michael Donnelly and Dale Ely and Shiva Esparham and Carl Fosler and Harold Gire and Stephen Glanowski and Kenneth Glasser and Anna Glodek and Mark Gorokhov and Ken Graham and Barry Gropman and Michael Harris and Jeremy Heil and Scott Henderson and Jeffrey Hoover and Donald Jennings and Catherine Jordan and James Jordan and John Kasha and Leonid Kagan and Cheryl Kraft and Alexander Levitsky and Mark Lewis and Xiangjun Liu and John Lopez and Daniel Ma and William Majoros and Joe McDaniel and Sean Murphy and Matthew Newman and Trung Nguyen and Ngoc Nguyen and Marc Nodell and Sue Pan and Jim Peck and Marshall Peterson and William Rowe and Robert Sanders and John Scott and Michael Simpson and Thomas Smith and Arlan Sprague and Timothy Stockwell and Russell Turner and Eli Venter and Mei Wang and Meiyuan Wen and David Wu and Mitchell Wu and Ashley Xia and Ali Zandieh and Xiaohong Zhu},
journal = {Science},
number = {5507},
pages = {1304--1351},
url = {http://www.sciencemag.org/cgi/content/abstract/291/5507/1304?ijkey=I/Cyc3kWkJJbA},
volume = {291},
year = {2001},
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 ~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.},
owner = {tkirsten}, __markedentry = {0},
keywords = {imported }
}