Initial sequencing and analysis of the human genome.
Eric S. Lander,Lauren Linton,Bruce W. Birren,Chad Nusbaum,Michael C. Zody,Jennifer Baldwin,Keri Devon,Ken Dewar,Michael Doyle,William Fitzhugh,Roel Funke,Diane Gage,Katrina Harris,Andrew Heaford,John Howland,Lisa Kann,Jessica A. Lehoczky,Rosie Levine,Paul A. McEwan,Kevin McKernan,James Meldrim,Jill P. Mesirov,Cher Miranda,William Morris,Jerome Naylor,Christina Raymond,Mark Rosetti,Ralph Santos,Andrew Sheridan,Carrie Sougnez,Nicole Stange-Thomann,Nikola Stojanovic,Aravind Subramanian,Dudley Wyman,Jane Rogers,John Sulston,R Ainscough,Stephan Beck,David Bentley,John Burton,C M Clee,Nigel P. Carter,Alan Coulson,Rebecca Deadman,Panos Deloukas,Andrew Dunham,Ian Dunham,Richard Durbin,Lisa French,Darren Grafham,Simon G. Gregory,Tim Hubbard,Sean Humphray,Adrienne Hunt,Matthew Jones,Christine Lloyd,Amanda McMurray,Lucy Matthews,Simon Mercer,Sarah Milne,James C. Mullikin,Andrew J. Mungall,Robert W. Plumb,Mark T. Ross,Ratna Shownkeen,Sarah Sims,Robert H. Waterston,Richard K. Wilson,LaDeana W. Hillier,John Douglas Mcpherson,Marco A. Marra,Elaine R. Mardis,Lucinda Fulton,Asif T. Chinwalla,Kymberlie H. Pepin,Warren Gish,Stephanie L. Chissoe,Michael C. Wendl,Kim D. Delehaunty,Tracie L. Miner,Andrew Delehaunty,Jason B. Kramer,Lisa Cook,Robert S. Fulton,Douglas L. Johnson,Patrick Minx,Sandra W. Clifton,Trevor Hawkins,Elbert Branscomb,Paul Predki,Paul G. Richardson,Sarah Wenning,Tom Slezak,Norman A. Doggett,Jan Fang Cheng,Anne S. Olsen,Susan Lucas,Christopher J. Elkin,Edward Uberbacher,Marvin Frazier,Richard A. Gibbs,Donna M. Muzny,Steven E. Scherer,John Bouck,Erica Sodergren,Kim C. Worley,Catherine M. Rives,James H. Gorrell,Michael L. Metzker,Susan L. Naylor,Raju Kucherlapati,David L. Nelson,George M. Weinstock,Yoshiyuki Sakaki,Asao Fujiyama,Masahira Hattori,Tetsushi Yada,Atsushi Toyoda,Takehiko Itoh,Chiharu Kawagoe,Hidemi Watanabe,Yasushi Totoki,Todd D. Taylor,Jean Weissenbach,Roland Heilig,William Saurin,François Artiguenave,Philippe Brottier,Thomas Brüls,Eric Pelletier,Catherine Robert,Patrick Wincker,André Rosenthal,Matthias Platzer,Gerald Nyakatura,Stefan Taudien,Andreas Rump,Douglas R. Smith,Lynn Doucette-Stamm,Marc Rubenfield,Keith Weinstock,Mei Lee Hong,Joann Dubois,Huanming Yang,Jun Yu,Jian Wang,Guyang Huang,Jun Gu,Leroy Hood,Lee Rowen,Anup Madan,Shizen Qin,Ronald W. Davis,Nancy A. Federspiel,A. Pia Abola,Michael Proctor,Bruce A. Roe,Feng Chen,Huaqin Pan,Juliane Ramser,Hans Lehrach,Richard Reinhardt,W. Richard McCombie,Melissa De La Bastide,Neilay Dedhia,H. Blöcker,K. Hornischer,Gabriele Nordsiek,Richa Agarwala,L. Aravind,Jeffrey A. Bailey,Alex Bateman,Serafim Batzoglou,Ewan Birney,Peer Bork,Daniel G. Brown,Christopher B. Burge,Lorenzo Cerutti,Hsiu Chuan Chen,Deanna M. Church,Michele Clamp,Richard R. Copley,Tobias Doerks,Sean R. Eddy,Evan E. Eichler,Terrence S. Furey,James E. Galagan,James G. R. Gilbert,Cyrus L. Harmon,Yoshihide Hayashizaki,David Haussler,Henning Hermjakob,Karsten Hokamp,Wonhee Jang,L. Steven Johnson,Thomas A. Jones,Simon Kasif,Arek Kaspryzk,Scot Kennedy,W. James Kent,Paul Kitts,Eugene V. Koonin,Ian F Korf,David Kulp,Doron Lancet,Todd M. Lowe,Aoife McLysaght,Tarjei S. Mikkelsen,John V. Moran,Nicola Mulder,Victor J. Pollara,Chris P. Ponting,Greg Schuler,Jörg Schultz,Guy Slater,Arian F.A. Smit,Elia Stupka,Joseph Szustakowki,Danielle Thierry-Mieg,Jean Thierry-Mieg,Lukas Wagner,John W. Wallis,Raymond Wheeler,Alan Williams,Yuri I. Wolf,Kenneth H. Wolfe,Shiaw Pyng Yang,Ru Fang Yeh,Francis S. Collins,Mark S. Guyer,Jane Peterson,Adam Felsenfeld,Kris A. Wetterstrand,Richard M. Myers,Jeremy Schmutz,Mark Dickson,Jane Grimwood,David R. Cox,Maynard V. Olson,Rajinder Kaul,Christopher K. Raymond,Nobuyoshi Shimizu,Kazuhiko Kawasaki,Shinsei Minoshima,Glen A. Evans,Maria Athanasiou,Roger A. Schultz,Aristides Patrinos,Michael J. Morgan +248 more
TLDR
The results of an international collaboration to produce and make freely available a draft sequence of the human genome are reported and an initial analysis is presented, describing some of the insights that can be gleaned from the sequence.Abstract:
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.read more
Citations
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Journal ArticleDOI
The sequence of sequencers: The history of sequencing DNA.
TL;DR: This article traverses those years, iterating through the different generations of sequencing technology, highlighting some of the key discoveries, researchers, and sequences along the way.
Journal ArticleDOI
The origin of new genes: glimpses from the young and old
TL;DR: The study of ancient genes has highlighted the antiquity and general importance of some mechanisms of gene origination, and recent observations of young genes at early stages in their evolution have unveiled unexpected molecular and evolutionary processes.
Journal ArticleDOI
A physical map of the human genome.
John Douglas Mcpherson,Marco A. Marra,Marco A. Marra,LaDeana W. Hillier,Robert H. Waterston,Asif T. Chinwalla,John W. Wallis,Mandeep Sekhon,Kristine M. Wylie,Elaine R. Mardis,Richard K. Wilson,Robert S. Fulton,Tamara A. Kucaba,Caryn Wagner-McPherson,William B. Barbazuk,Simon G. Gregory,Sean Humphray,Lisa French,R Evans,Graeme Bethel,Adam Whittaker,Jane L. Holden,Owen T. McCann,Andrew Dunham,Carol Soderlund,Carol Scott,David R. Bentley,Gregory D. Schuler,Hsiu Chuan Chen,Wonhee Jang,Eric D. Green,Jacquelyn R. Idol,Valerie Maduro,Kate Montgomery,Eunice Lee,Ashley Miller,Suzanne Emerling,Raju Kucherlapati,Richard A. Gibbs,Steve Scherer,J. Harley Gorrell,Erica Sodergren,Kerstin P. Clerc-Blankenburg,Paul E. Tabor,S. Naylor,Dawn Garcia,J. de Jong,J. de Jong,J. de Jong,Joseph J. Catanese,Joseph J. Catanese,Joseph J. Catanese,Norma J. Nowak,Kazutoyo Osoegawa,Kazutoyo Osoegawa,Kazutoyo Osoegawa,Shizhen Qin,Lee Rowen,Anuradha Madan,Monica Dors,Leroy Hood,Barbara J. Trask,Cynthia Friedman,Hillary Massa,Vivian G. Cheung,Ilan R. Kirsch,Thomas Reid,Raluca Yonescu,Jean Weissenbach,Thomas Brüls,Roland Heilig,Elbert Branscomb,Anne S. Olsen,Norman A. Doggett,Jan Fang Cheng,Trevor Hawkins,Richard M. Myers,Jin Shang,Lucía Ramírez,Jeremy Schmutz,Olivia Velasquez,Kami Dixon,Nancy E. Stone,David R. Cox,David Haussler,W. James Kent,Terrence S. Furey,Sanja Rogic,Scot Kennedy,Steven J.M. Jones,André Rosenthal,Gaiping Wen,Markus Schilhabel,Gernot Gloeckner,Gerald Nyakatura,Reiner Siebert,Brigitte Schlegelberger,Julie R. Korenberg,Xiao Ning Chen,Asao Fujiyama,Masahira Hattori,Atsushi Toyoda,Tetsushi Yada,Hong Seok Park,Yoshiyuki Sakaki,Nobuyoshi Shimizu,Shuichi Asakawa,Kazuhiko Kawasaki,Takashi Sasaki,Ai Shintani,Atsushi Shimizu,Kazunori Shibuya,Jun Kudoh,Shinsei Minoshima,Juliane Ramser,Peter Seranski,Céline Hoff,Annemarie Poustka,Richard Reinhardt,Hans Lehrach +119 more
TL;DR: The construction of the whole-genome bacterial artificial chromosome (BAC) map and its integration with previous landmark maps and information from mapping efforts focused on specific chromosomal regions are reported.
Journal ArticleDOI
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
Aaron M. Wenger,Paul Peluso,William J Rowell,Pi-Chuan Chang,Richard Hall,Gregory T. Concepcion,Jana Ebler,Arkarachai Fungtammasan,Alexander Kolesnikov,Nathan D. Olson,Armin Töpfer,Michael Alonge,Medhat Mahmoud,Yufeng Qian,Chen-Shan Chin,Adam M. Phillippy,Michael C. Schatz,Gene Myers,Mark A. DePristo,Jue Ruan,Tobias Marschall,Tobias Marschall,Fritz J. Sedlazeck,Justin M. Zook,Heng Li,Sergey Koren,Andrew Carroll,David R. Rank,Michael W. Hunkapiller +28 more
TL;DR: The optimization of circular consensus sequencing (CCS) is reported to improve the accuracy of single-molecule real-time (SMRT) sequencing (PacBio) and generate highly accurate (99.8%) long high-fidelity (HiFi) reads with an average length of 13.5 kilobases (kb).
Journal ArticleDOI
Efficient Transposition of the piggyBac (PB) Transposon in Mammalian Cells and Mice
TL;DR: It is shown that piggyBac elements carrying multiple genes can efficiently transpose in human and mouse cell lines and also in mice, providing a first and critical step toward a highly efficient transposon system for a variety of genetic manipulations in mice and other vertebrates.
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TL;DR: Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems are indicated.
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Identification of common molecular subsequences.
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Sequence and organization of the human mitochondrial genome
Stephen Anderson,Alan T. Bankier,Bart Barrell,M.H.L. de Bruijn,Alan Coulson,J. Drouin,J. Drouin,Ian C. Eperon,Donald P. Nierlich,Donald P. Nierlich,Bruce A. Roe,Bruce A. Roe,Frederick Sanger,P. H. Schreier,Andrew J.H. Smith,Rodger Staden,Ian G. Young,Ian G. Young +17 more
TL;DR: The complete sequence of the 16,569-base pair human mitochondrial genome is presented and shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.
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