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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Chemical Diversity in the Sialic Acids and Related α-Keto Acids: An Evolutionary Perspective
Takashi Angata,Ajit Varki +1 more
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The DNA sequence of the human X chromosome
Mark T. Ross,Darren Grafham,Alison J. Coffey,Steven E. Scherer,Kirsten McLay,Donna M. Muzny,Matthias Platzer,Gareth R. Howell,Christine Burrows,Christine P. Bird,Adam Frankish,Frances L Lovell,Kevin L. Howe,Jennifer L. Ashurst,Robert S. Fulton,Ralf Sudbrak,Ralf Sudbrak,Gaiping Wen,Matthew C. Jones,Matthew E. Hurles,T. Daniel Andrews,Carol Scott,Stephen M. J. Searle,Juliane Ramser,Adam Whittaker,Rebecca Deadman,Nigel P. Carter,Sarah E. Hunt,Rui Chen,Andrew Cree,Preethi H. Gunaratne,Paul Havlak,Anne Hodgson,Michael L. Metzker,Stephen Richards,Graham Scott,David Steffen,Erica Sodergren,David A. Wheeler,Kim C. Worley,R Ainscough,K D Ambrose,M. Ali Ansari-Lari,Swaroop Aradhya,R I S Ashwell,A K Babbage,Claire L Bagguley,Andrea Ballabio,Ruby Banerjee,Gary E Barker,K F Barlow,Ian P. Barrett,Karen N Bates,David Beare,Helen Beasley,Oliver Beasley,Alfred Beck,Graeme Bethel,Karin Blechschmidt,Nicola Brady,Sarah Bray-Allen,Anne Bridgeman,Andrew Brown,Mary J. Brown,David Bonnin,Elspeth A. Bruford,Christian J. Buhay,Paula E. Burch,D C Burford,Joanne Burgess,Wayne Burrill,John Burton,Jackie Bye,C Carder,Laura Carrel,Joseph Chako,Joanne C Chapman,Dean Chavez,Ellson Y. Chen,Guan Chen,Yuan Chen,Zhijian J. Chen,Craig Chinault,Alfredo Ciccodicola,Sue Y Clark,Graham Clarke,Chris Clee,S. M. Clegg,Kerstin P. Clerc-Blankenburg,Karen Clifford,Vicky Cobley,Charlotte G. Cole,Jen S. Conquer,N Corby,Richard E Connor,Robert G. David,Joy Davies,Clay Davis,John M. Davis,Oliver Delgado,Denise R. DeShazo,Pawandeep Dhami,Yan Ding,Huyen Dinh,Steve Dodsworth,Heather R. Draper,Shannon Dugan-Rocha,Andrew Dunham,Matthew Dunn,K. James Durbin,Ireena Dutta,Tamsin Eades,Matthew Ellwood,Alexandra Emery-Cohen,Helen Errington,Kathryn L. Evans,Louisa Faulkner,Fiona Francis,John Frankland,Audrey Fraser,Petra Galgoczy,James G. R. Gilbert,Rachel Gill,Gernot Glöckner,Simon G. Gregory,Susan M. Gribble,C Griffiths,Russell J. Grocock,Yanghong Gu,Rhian Gwilliam,Cerissa Hamilton,E. Hart,Alicia Hawes,Paul Heath,Katja Heitmann,Steffen Hennig,Judith Hernandez,Bernd Hinzmann,Sarah Ho,Michael Hoffs,Phillip J Howden,Elizabeth J. Huckle,Jennifer Hume,Paul Hunt,Adrienne Hunt,Judith Isherwood,Leni S. Jacob,David W. Johnson,Sally Jones,Pieter J. de Jong,Shirin S. Joseph,Stephen Keenan,Susan H. Kelly,Joanne K Kershaw,Ziad Khan,Petra Kioschis,Sven Klages,Andrew J Knights,Anna Kosiura,Christie Kovar-Smith,Gavin K. Laird,Cordelia Langford,S Lawlor,Margaret A. Leversha,Lora Lewis,Wen Liu,Christine Lloyd,D. M. Lloyd,Hermela Loulseged,Jane E. Loveland,J Lovell,Ryan J. Lozado,Jing Lu,Rachael Lyne,Jie Ma,Manjula Maheshwari,Lucy Matthews,Jennifer McDowall,Stuart McLaren,Amanda McMurray,Patrick Meidl,Thomas Meitinger,Sarah Milne,George Miner,Shailesh L Mistry,Margaret Morgan,Sidney Morris,Ines Müller,James C. Mullikin,Ngoc Nguyen,Gabriele Nordsiek,Gerald Nyakatura,Christopher N O'Dell,Geoffery Okwuonu,Sophie Palmer,Richard Pandian,David Parker,Julia E. Parrish,Shiran Pasternak,Dina Patel,Alex V Pearce,D. Pearson,Sarah Pelan,Lesette Perez,K M Porter,Yvonne Ramsey,Kathrin Reichwald,Susan Rhodes,Kerry A Ridler,David Schlessinger,Mary G. Schueler,Harminder Sehra,Charles Shaw-Smith,Hua Shen,E Sheridan,Ratna Shownkeen,C. D. Skuce,Michelle Smith,Elizabeth C. Sotheran,Helen E. Steingruber,Charles A. Steward,Roy Storey,R Mark Swann,David Swarbreck,Paul E. Tabor,Stefan Taudien,Tineace Taylor,Brian Teague,Karen Thomas,Andrea Thorpe,Kirsten M. Timms,Alan Tracey,Steve Trevanion,A Tromans,Michele D'Urso,Daniel Verduzco,Donna Villasana,Lenee Waldron,Melanie M. Wall,Qiaoyan Wang,James T. Warren,Georgina Warry,Xuehong Wei,Anthony P. West,S. Whitehead,Mathew N Whiteley,Jane E. Wilkinson,David Willey,Gabrielle Williams,Leanne Williams,Angela Williamson,Helen Williamson,Laurens G. Wilming,Rebecca Woodmansey,Paul Wray,Jennifer Yen,Jingkun Zhang,Jianling Zhou,Huda Y. Zoghbi,Sara Zorilla,David Buck,Richard Reinhardt,Annemarie Poustka,André Rosenthal,Hans Lehrach,Alfons Meindl,Patrick Minx,LaDeana W. Hillier,Huntington F. Willard,Richard K. Wilson,Robert H. Waterston,Catherine M. Rice,M. Vaudin,Alan Coulson,David L. Nelson,George M. Weinstock,John Sulston,Richard Durbin,Tim Hubbard,Richard A. Gibbs,Stephan Beck,Jane Rogers,David R. Bentley +282 more
TL;DR: This analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome.
Journal ArticleDOI
Microsatellites are preferentially associated with nonrepetitive DNA in plant genomes.
TL;DR: In this article, the abundance and relative distribution of microsatellites between transcribed and nontranscribed regions and the relationship of these features to haploid genome size was evaluated in plants.
Journal ArticleDOI
Accessing genetic variation: genotyping single nucleotide polymorphisms
TL;DR: The hope that single nucleotide polymorphisms will allow genes that underlie complex disease to be identified, together with progress in identifying large sets ofSNPs, are the driving forces behind intense efforts to establish the technology for large-scale analysis of SNPs.
Journal ArticleDOI
Development of Human Protein Reference Database as an Initial Platform for Approaching Systems Biology in Humans
Suraj Peri,Suraj Peri,J. Daniel Navarro,J. Daniel Navarro,Ramars Amanchy,Troels Z. Kristiansen,Troels Z. Kristiansen,Chandra Kiran Jonnalagadda,Vineeth Surendranath,Vidya Niranjan,Babylakshmi Muthusamy,Tejal K. Gandhi,Mads Grønborg,Mads Grønborg,Nieves Ibarrola,Nandan P. Deshpande,K. Shanker,H N Shivashankar,B. P. Rashmi,M A Ramya,Zhixing Zhao,K N Chandrika,N. Padma,H. C. Harsha,A.J. Yatish,M.P. Kavitha,Minal Menezes,Dipanwita Roy Choudhury,Shubha Suresh,Neelanjana Ghosh,R. Saravana,Sreenath Chandran,Subhalakshmi Krishna,Mary Joy,Sanjeev K. Anand,V. Madavan,Ansamma Joseph,Guang W. Wong,William P. Schiemann,Stefan N. Constantinescu,Lily Jun Shen Huang,Roya Khosravi-Far,Hanno Steen,Muneesh Tewari,Saghi Ghaffari,Gerard C. Blobe,Chi V. Dang,Joe G.N. Garcia,Jonathan Pevsner,Ole N. Jensen,Peter Roepstorff,Krishna S. Deshpande,Arul M. Chinnaiyan,Ada Hamosh,Aravinda Chakravarti,Akhilesh Pandey +55 more
TL;DR: The Human Protein Reference Database (HPRD) as mentioned in this paper is an object database that integrates a wealth of information relevant to the function of human proteins in health and disease, including protein-protein interactions, posttranslational modifications, enzyme/substrate relationships, disease associations, tissue expression, and subcellular localization.
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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).
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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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