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
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SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells.
Parysatis Sachs,Dong Ding,Philipp Bergmaier,Boris Lamp,Christina Schlagheck,Florian Finkernagel,Andrea Nist,Thorsten Stiewe,Jacqueline E. Mermoud +8 more
TL;DR: The authors show that the ATPase function of the chromatin remodeler SMARCAD1 facilitates the binding of KAP1 to ERVs and is required for their repression in embryonic stem cells.
Journal ArticleDOI
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.
TL;DR: Understanding steroidogenesis is of fundamental importance to understanding disorders of sexual differentiation, reproduction, fertility, hypertension, obesity, and physiological homeostasis.
Journal ArticleDOI
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs
Yasushi Okazaki,Masaaki Furuno,Takeya Kasukawa,Jun Adachi,Hidemasa Bono,S. Kondo,Itoshi Nikaido,Naoki Osato,Rintaro Saito,Harukazu Suzuki,Itaru Yamanaka,H. Kiyosawa,Ken Yagi,Yasuhiro Tomaru,Yuki Hasegawa,A. Nogami,Christian Schönbach,Takashi Gojobori,Richard M. Baldarelli,David P. Hill,Carol J. Bult,David A. Hume,John Quackenbush,Lynn M. Schriml,Alexander Kanapin,Hideo Matsuda,Serge Batalov,Kirk W. Beisel,Judith A. Blake,Dirck W. Bradt,Vladimir Brusic,Cyrus Chothia,Lori E. Corbani,S. Cousins,Emiliano Dalla,Tommaso A. Dragani,Colin F. Fletcher,Colin F. Fletcher,Alistair R. R. Forrest,K. S. Frazer,Terry Gaasterland,Manuela Gariboldi,Carmela Gissi,Adam Godzik,Julian Gough,Sean M. Grimmond,Stefano Gustincich,Nobutaka Hirokawa,Ian J. Jackson,Erich D. Jarvis,Akio Kanai,Hideya Kawaji,Hideya Kawaji,Yuka Imamura Kawasawa,Rafal M. Kedzierski,Benjamin L. King,Akihiko Konagaya,Igor V. Kurochkin,Yong-Hwan Lee,Boris Lenhard,Paul A. Lyons,Donna Maglott,Lois J. Maltais,Luigi Marchionni,Louise M. McKenzie,Harukata Miki,Takeshi Nagashima,Koji Numata,Toshihisa Okido,William J. Pavan,Geo Pertea,Graziano Pesole,Nikolai Petrovsky,Ramesh S. Pillai,Joan Pontius,D. Qi,Sridhar Ramachandran,Timothy Ravasi,Jonathan C. Reed,Deborah J Reed,Jeffrey G. Reid,Brian Z. Ring,M. Ringwald,Albin Sandelin,Claudio Schneider,Colin A. Semple,Mitsutoshi Setou,K. Shimada,Razvan Sultana,Yoichi Takenaka,Martin S. Taylor,Rohan D. Teasdale,Masaru Tomita,Roberto Verardo,Lukas Wagner,Claes Wahlestedt,Y. Wang,Yoshiki Watanabe,Christine A. Wells,Laurens G. Wilming,Anthony Wynshaw-Boris,Masashi Yanagisawa,Ivana V. Yang,L. Yang,Zheng Yuan,Mihaela Zavolan,Yunhui Zhu,Anne M. Zimmer,Piero Carninci,N. Hayatsu,Tomoko Hirozane-Kishikawa,Hideaki Konno,M. Nakamura,Naoko Sakazume,K. Sato,Toshiyuki Shiraki,Kazunori Waki,Jun Kawai,Katsunori Aizawa,Takahiro Arakawa,S. Fukuda,A. Hara,W. Hashizume,K. Imotani,Y. Ishii,Masayoshi Itoh,Ikuko Kagawa,A. Miyazaki,K. Sakai,D. Sasaki,K. Shibata,Akira Shinagawa,Ayako Yasunishi,Masayasu Yoshino,Robert H. Waterston,Eric S. Lander,Jane Rogers,Ewan Birney,Yoshihide Hayashizaki +138 more
TL;DR: The present work, completely supported by physical clones, provides the most comprehensive survey of a mammalian transcriptome so far, and is a valuable resource for functional genomics.
Journal ArticleDOI
Protein therapeutics: a summary and pharmacological classification
TL;DR: Some of the key characteristics of protein therapeutics are overviewed, a new classification of these proteins according to their pharmacological action is suggested and this article summarizes the more than 130 protein therapeuticals used currently and suggests a new classifications.
Journal ArticleDOI
ChIP-seq accurately predicts tissue-specific activity of enhancers
Axel Visel,Matthew J. Blow,Matthew J. Blow,Zirong Li,Tao Zhang,Jennifer A. Akiyama,Amy Holt,Ingrid Plajzer-Frick,Malak Shoukry,Crystal Wright,Feng Chen,Veena Afzal,Bing Ren,Edward M. Rubin,Edward M. Rubin,Len A. Pennacchio,Len A. Pennacchio +16 more
TL;DR: In this paper, the results of chromatin immunoprecipitation with the enhancer-associated protein p300 followed by massively parallel sequencing, and map several thousand in vivo binding sites of p300 in mouse embryonic forebrain, midbrain and limb tissue.
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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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