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
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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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Integration with the human genome of peptide sequences obtained by high-throughput mass spectrometry
Frank Desiere,Eric W. Deutsch,Alexey I. Nesvizhskii,Parag Mallick,Nichole L. King,Jimmy K. Eng,Alan Aderem,Rose Boyle,Erich Brunner,Samuel Donohoe,Nelson Fausto,Ernst Hafen,Lee Hood,Michael G. Katze,Kathleen A. Kennedy,Floyd Kregenow,Hookeun Lee,Biaoyang Lin,Daniel Martin,Jeffrey A. Ranish,David J Rawlings,Lawrence E. Samelson,Yuzuru Shiio,Julian D. Watts,Bernd Wollscheid,Michael E. Wright,Wei Yan,Li-hong Yang,Eugene C. Yi,Hui Zhang,Ruedi Aebersold +30 more
TL;DR: It is demonstrated that peptide identifications obtained from high-throughput proteomics can be integrated on a large scale with the human genome and this resource could serve as an expandable repository for MS-derived proteome information.
Journal ArticleDOI
The role of aperiodic order in science and technology
TL;DR: The role of aperiodic order in different domains of science and technology from an interdisciplinary approach is discussed in this paper, where several conceptual links between quasiperiodic crystals and the hierarchical structure of biopolymers are discussed.
Journal ArticleDOI
Nature, nurture, and development: from evangelism through science toward policy and practice.
TL;DR: A summary review of the real gains in knowledge, some of the misleading claims, and the potential for research and for science-led improvements in policies and practice are provided.
Journal ArticleDOI
A comprehensive catalog of human KRAB-associated zinc finger genes: Insights into the evolutionary history of a large family of transcriptional repressors
Stuart Huntley,Daniel M. Baggott,Aaron T. Hamilton,Mary Bao Tran-Gyamfi,Shan Yang,Joomyeong Kim,Laurie Gordon,Elbert Branscomb,Lisa Stubbs +8 more
TL;DR: Comparisons between the human genes and ZNF loci mined from the draft mouse, dog, and chimpanzee genomes identified 103 KRAB-ZNF genes that are conserved in mammals but also highlighted a substantial level of lineage-specific change.
Journal ArticleDOI
The DNA sequence and biology of human chromosome 19
Jane Grimwood,Laurie Gordon,Laurie Gordon,Anne S. Olsen,Anne S. Olsen,Astrid Terry,Jeremy Schmutz,Jane Lamerdin,Jane Lamerdin,Uffe Hellsten,David Goodstein,Olivier Couronne,Mary Bao Tran-Gyamfi,Mary Bao Tran-Gyamfi,Andrea Aerts,Michael R. Altherr,Michael R. Altherr,Linda K. Ashworth,Linda K. Ashworth,Eva Bajorek,Stacey Black,Elbert Branscomb,Elbert Branscomb,Sean Caenepeel,Anthony V. Carrano,Anthony V. Carrano,Chenier Caoile,Yee Man Chan,Mari Christensen,Mari Christensen,Catherine A. Cleland,Catherine A. Cleland,Alex Copeland,Eileen Dalin,Paramvir S. Dehal,Mirian Denys,John C. Detter,Julio Escobar,Dave Flowers,Dea Fotopulos,Carmen Rosa Albacete García,Anca M. Georgescu,Anca M. Georgescu,Tijana Glavina,Maria Gomez,Eidelyn Gonzales,Matthew Groza,Matthew Groza,Nancy Hammon,Trevor Hawkins,Lauren Haydu,Isaac Ho,Wayne Huang,Sanjay Israni,Jamie Jett,Kristen Kadner,Heather Kimball,Arthur Kobayashi,Arthur Kobayashi,Vladimer Larionov,Sun-Hee Leem,Frederick Lopez,Yunian Lou,Steve Lowry,Stephanie Malfatti,Stephanie Malfatti,Diego Martinez,Paula McCready,Paula McCready,Catherine Medina,Jenna Morgan,Kathryn Nelson,Kathryn Nelson,Matt Nolan,Ivan Ovcharenko,Ivan Ovcharenko,Sam Pitluck,Martin Pollard,Anthony P. Popkie,Paul Predki,Glenda Quan,Glenda Quan,Lucía Ramírez,Sam Rash,James Retterer,Alex Rodriguez,Stephanine Rogers,Asaf Salamov,Angelica Salazar,Xinwei She,Doug Smith,Tom Slezak,Tom Slezak,Victor V. Solovyev,Nina Thayer,Nina Thayer,Hope Tice,Ming Tsai,Anna Ustaszewska,Nu Vo,Mark C. Wagner,Mark C. Wagner,Jeremy Wheeler,Kevin Wu,Gary Xie,Gary Xie,Joan Yang,Inna Dubchak,Terrence S. Furey,Pieter J. deJong,Mark Dickson,David Gordon,Evan E. Eichler,Len A. Pennacchio,Paul G. Richardson,Lisa Stubbs,Lisa Stubbs,Daniel S. Rokhsar,Richard M. Myers,Edward M. Rubin,Susan Lucas +120 more
TL;DR: Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.
References
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The sequence of the human genome.
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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.
TL;DR: This letter extends the heuristic homology algorithm of Needleman & Wunsch (1970) to find a pair of segments, one from each of two long sequences, such that there is no other Pair of segments with greater similarity (homology).
Journal ArticleDOI
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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