Integrating common and rare genetic variation in diverse human populations
David Altshuler,Richard A. Gibbs,Leena Peltonen,Emmanouil T. Dermitzakis,Stephen F. Schaffner,Fuli Yu,Penelope E. Bonnen,de Bakker Piw.,Panagiotis Deloukas,Stacey Gabriel,R. Gwilliam,Sarah E. Hunt,Michael Inouye,Xiaoming Jia,Aarno Palotie,Melissa Parkin,Pamela Whittaker,Kyle Chang,Alicia Hawes,Lora Lewis,Yanru Ren,D Wheeler,Donna M. Muzny,Chris P. Barnes,Katayoon Darvishi,Matthew E. Hurles,Joshua M. Korn,K. Kristiansson,Charles Lee,S A McCarrol,James Nemesh,Alon Keinan,Stephen B. Montgomery,Samuela Pollack,Alkes L. Price,Nicole Soranzo,Claudia Gonzaga-Jauregui,Verneri Anttila,Wendy Brodeur,Mark J. Daly,Stephen Leslie,Gil McVean,Loukas Moutsianas,Huy Nguyen,Qingrun Zhang,Ghori Mjr.,Ralph McGinnis,William M. McLaren,Fumihiko Takeuchi,Sharon R. Grossman,Ilya Shlyakhter,Elizabeth Hostetter,Pardis C. Sabeti,Clement Adebamowo,Morris W. Foster,Deborah R. Gordon,Julio Licinio,M C Manca,Patricia A. Marshall,Ichiro Matsuda,D Ngare,Vivian Ota Wang,D Reddy,Charles N. Rotimi,Charmaine D.M. Royal,Richard R. Sharp,Changqing Zeng,Lisa D. Brooks,Jean E. McEwen +68 more
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TLDR
An expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.Abstract:
Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called 'HapMap 3', includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of <or=5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.read more
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Sperm methylation profiles reveal features of epigenetic inheritance and evolution in primates
Antoine Molaro,Emily Hodges,Fang Fang,Qiang Song,W. Richard McCombie,Gregory J. Hannon,Andrew D. Smith +6 more
TL;DR: The methylomes of human and chimp sperm revealed a subset of differentially methylated promoters and strikingly divergent methylation in retrotransposon subfamilies, with an evolutionary impact that is apparent in the underlying genomic sequence.
Journal ArticleDOI
Genome-wide associations for birth weight and correlations with adult disease
Momoko Horikoshi,Robin N Beaumont,Felix R. Day,Nicole M. Warrington,Nicole M. Warrington,Marjolein N. Kooijman,Juan Fernández-Tajes,Bjarke Feenstra,Natalie R. van Zuydam,Kyle J. Gaulton,Kyle J. Gaulton,Niels Grarup,Jonathan P. Bradfield,David P. Strachan,Ruifang Li-Gao,Tarunveer S. Ahluwalia,Tarunveer S. Ahluwalia,Eskil Kreiner,Rico Rueedi,Rico Rueedi,Leo-Pekka Lyytikäinen,Diana L. Cousminer,Diana L. Cousminer,Diana L. Cousminer,Ying Wu,Elisabeth Thiering,Carol A. Wang,Christian Theil Have,Jouke-Jan Hottenga,Natalia Vilor-Tejedor,Peter K. Joshi,Eileen Tai-Hui Boh,Ioanna Ntalla,Ioanna Ntalla,Niina Pitkänen,Anubha Mahajan,Elisabeth M. van Leeuwen,Raimo Joro,Vasiliki Lagou,Vasiliki Lagou,Michael Nodzenski,Louise A. Diver,Krina T. Zondervan,Mariona Bustamante,Pedro Marques-Vidal,Josep M. Mercader,Amanda J. Bennett,Nilufer Rahmioglu,Dale R. Nyholt,Ronald C.W. Ma,Claudia H. T. Tam,Wing Hung Tam,Santhi K. Ganesh,Frank J.A. van Rooij,Samuel E. Jones,Po-Ru Loh,Katherine S. Ruth,Marcus A. Tuke,Jessica Tyrrell,Andrew R. Wood,Hanieh Yaghootkar,Denise M. Scholtens,Lavinia Paternoster,Inga Prokopenko,Inga Prokopenko,Peter Kovacs,Mustafa Atalay,Sara M. Willems,Kalliope Panoutsopoulou,Xu Wang,Lisbeth Carstensen,Frank Geller,Katharina E. Schraut,Mario Murcia,Catharina E. M. van Beijsterveldt,Gonneke Willemsen,Emil V. R. Appel,Cilius Esmann Fonvig,Cæcilie Trier,Carla M. T. Tiesler,Marie Standl,Zoltán Kutalik,Zoltán Kutalik,Sílvia Bonàs-Guarch,David M. Hougaard,Friman Sánchez,David Torrents,Johannes Waage,Mads V. Hollegaard,Hugoline G. de Haan,Frits R. Rosendaal,Carolina Medina-Gomez,Susan M. Ring,Gibran Hemani,George McMahon,Neil R. Robertson,Christopher J. Groves,Claudia Langenberg,Jian'an Luan,Robert A. Scott,Jing Hua Zhao,Frank D. Mentch,Scott M. MacKenzie,Rebecca M. Reynolds,William L. Lowe,Anke Tönjes,Michael Stumvoll,Virpi Lindi,Timo A. Lakka,Cornelia M. van Duijn,Wieland Kiess,Antje Körner,Thorkild I. A. Sørensen,Harri Niinikoski,Katja Pahkala,Olli T. Raitakari,Eleftheria Zeggini,George Dedoussis,Yik Ying Teo,Seang-Mei Saw,Mads Melbye,Mads Melbye,Mads Melbye,Harry Campbell,James F. Wilson,Martine Vrijheid,Eco J. C. de Geus,Eco J. C. de Geus,Dorret I. Boomsma,Haja N. Kadarmideen,Jens-Christian Holm,Torben Hansen,Sylvain Sebert,Sylvain Sebert,Andrew T. Hattersley,Lawrence J. Beilin,John P. Newnham,Craig E. Pennell,Joachim Heinrich,Linda S. Adair,Judith B. Borja,Karen L. Mohlke,Johan G. Eriksson,Johan G. Eriksson,Elisabeth Widen,Mika Kähönen,Jorma Viikari,Terho Lehtimäki,Peter Vollenweider,Klaus Bønnelykke,Hans Bisgaard,Dennis O. Mook-Kanamori,Albert Hofman,Fernando Rivadeneira,André G. Uitterlinden,Charlotta Pisinger,Oluf Pedersen,Christine Power,Elina Hyppönen,Elina Hyppönen,Nicholas J. Wareham,Hakon Hakonarson,Eleanor Davies,Brian R. Walker,Vincent W. V. Jaddoe,Marjo-Riitta Järvelin,Struan F.A. Grant,Allan Vaag,Allan Vaag,Debbie A Lawlor,Timothy M. Frayling,George Davey Smith,Andrew P. Morris,Andrew P. Morris,Andrew P. Morris,Ken K. Ong,Janine F. Felix,Nicholas J. Timpson,John R. B. Perry,David M. Evans,David M. Evans,Mark I. McCarthy,Mark I. McCarthy,Mark I. McCarthy,Rachel M. Freathy,Rachel M. Freathy +185 more
TL;DR: In this paper, the authors performed a meta-analysis of birth weight in 153,781 individuals, identifying 60 loci where fetal genotype was associated with birth weight (P < 5.5×10−8).
Journal ArticleDOI
Quality control and conduct of genome-wide association meta-analyses
Thomas W. Winkler,Felix R. Day,Damien C. Croteau-Chonka,Andrew R. Wood,Adam E. Locke,Reedik Mägi,Teresa Ferreira,Tove Fall,Mariaelisa Graff,Anne E. Justice,Jian'an Luan,Stefan Gustafsson,Joshua C. Randall,Sailaja Vedantam,Tsegaselassie Workalemahu,Tuomas O. Kilpeläinen,André Scherag,Tõnu Esko,Zoltán Kutalik,Iris M. Heid,Ruth J. F. Loos +20 more
TL;DR: In this article, a general protocol for conducting GWAMAs and carrying out QC to minimize errors and to guarantee maximum use of the data is presented. But this protocol is not suitable for large consortia such as the GIANT Consortium.
Journal ArticleDOI
Identification of new susceptibility loci for osteoarthritis (arcOGEN): A genome-wide association study
Eleftheria Zeggini,Kalliope Panoutsopoulou,Lorraine Southam,Lorraine Southam,N W Rayner,Aaron G. Day-Williams,M C Lopes,M C Lopes,Vesna Boraska,Tõnu Esko,Evangelos Evangelou,A Hoffman,Jeanine J. Houwing-Duistermaat,Thorvaldur Ingvarsson,Ingileif Jonsdottir,Ingileif Jonsdottir,H Jonnson,Hanneke J. M. Kerkhof,Margreet Kloppenburg,Steffan D. Bos,Massimo Mangino,Sarah Metrustry,P E Slagboom,Gudmar Thorleifsson,Raine Eva.,Madhushika Ratnayake,Michelle Ricketts,C Beazley,Hannah Blackburn,Suzannah Bumpstead,K S Elliott,Sarah E. Hunt,Simon C. Potter,Shin S-Y.,Vijay K. Yadav,Guangju Zhai,K Sherburn,K Dixon,E Arden,N Aslam,Battley P-K.,I Carluke,Sally Doherty,Allan Gordon,J Joseph,Richard Keen,N Koller,Sheryl Mitchell,F O'Neill,E Paling,Mike R. Reed,Fernando Rivadeneira,D Swift,K Walker,Bridget Watkins,M. Wheeler,Fraser Birrell,Ioannidis Jpa.,Ingrid Meulenbelt,Andres Metspalu,Ashok Rai,Donald Salter,K. Stefansson,U Stykarsdottir,A.G. Uitterlinden,van Meurs Jbj.,Karen E. Chapman,Panagiotis Deloukas,Ollier Wer.,Gillian A. Wallis,Nigel K Arden,Andrew Carr,Michael Doherty,Andrew McCaskie,J M Willkinson,Stuart Ralston,Ana M. Valdes,Tim D. Spector,John Loughlin +78 more
TL;DR: One of the signals close to genome-wide significance was within the FTO gene, which is involved in regulation of bodyweight—a strong risk factor for osteoarthritis.
Journal ArticleDOI
GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia
Joëlle A. Pasman,Karin J. H. Verweij,Karin J. H. Verweij,Zachary Gerring,Sven Stringer,Sandra Sanchez-Roige,Jorien L. Treur,Abdel Abdellaoui,Michel G. Nivard,Bart M. L. Baselmans,Jue-Sheng Ong,Hill F. Ip,Matthijs D. van der Zee,Meike Bartels,Felix R. Day,Pierre Fontanillas,Sarah L. Elson,Harriet de Wit,Lea K. Davis,James MacKillop,Jaime Derringer,Susan Branje,Catharina A. Hartman,Andrew C. Heath,Pol A. C. van Lier,Pamela A. F. Madden,Reedik Mägi,Wim Meeus,Grant W. Montgomery,Albertine J. Oldehinkel,Zdenka Pausova,Josep Antoni Ramos-Quiroga,Tomáš Paus,Marta Ribasés,Marta Ribasés,Jaakko Kaprio,Marco P. Boks,Jordana T. Bell,Tim D. Spector,Joel Gelernter,Dorret I. Boomsma,Nicholas G. Martin,Stuart MacGregor,John R. B. Perry,Abraham A. Palmer,Danielle Posthuma,Marcus R. Munafò,Nathan A. Gillespie,Nathan A. Gillespie,Eske M. Derks,Jacqueline M. Vink +50 more
TL;DR: A GWAS of lifetime cannabis use reveals new risk loci, shows that cannabis use has genetic overlap with smoking and alcohol use, and indicates that the likelihood of initiating cannabis use is causally influenced by schizophrenia.
References
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TL;DR: 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.
Journal ArticleDOI
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
Paul Burton,David Clayton,Lon R. Cardon,Nicholas John Craddock,Panos Deloukas,Audrey Duncanson,Dominic P. Kwiatkowski,Mark I. McCarthy,Willem H. Ouwehand,Nilesh J. Samani,John A. Todd,Peter Donnelly,Jeffrey C. Barrett,Dan Davison,Doug Easton,David M. Evans,H. T. Leung,Jonathan Marchini,Andrew P. Morris,Chris C. A. Spencer,Martin D. Tobin,Antony P. Attwood,James P. Boorman,Barbara Cant,Ursula Everson,Judith M. Hussey,Jennifer Jolley,Alexandra S. Knight,Kerstin Koch,Elizabeth Meech,Sarah Nutland,Christopher Prowse,Helen Stevens,Niall C. Taylor,Graham R. Walters,Neil Walker,Nicholas A. Watkins,Thilo Winzer,Richard Jones,Wendy L. McArdle,Susan M. Ring,David P. Strachan,Marcus Pembrey,Gerome Breen,David St Clair,Sian Caesar,Katherine Gordon-Smith,Lisa Jones,Christine Fraser,Elaine K. Green,Detelina Grozeva,Marian L. Hamshere,Peter Holmans,Ian Jones,George Kirov,Valentina Moskvina,Ivan Nikolov,Michael Conlon O'Donovan,Michael John Owen,David A. Collier,Amanda Elkin,Anne Farmer,Richard Williamson,Peter McGuffin,Allan H. Young,I. Nicol Ferrier,Stephen G. Ball,Anthony J. Balmforth,Jennifer H. Barrett,D. Timothy Bishop,Mark M. Iles,Azhar Maqbool,Nadira Yuldasheva,Alistair S. Hall,Peter S. Braund,Richard J. Dixon,Massimo Mangino,Suzanne Stevens,John R. Thompson,Francesca Bredin,Mark Tremelling,Miles Parkes,Hazel E. Drummond,Charlie W. Lees,Elaine R. Nimmo,Jack Satsangi,Sheila A. Fisher,Alastair Forbes,Cathryn M. Lewis,Clive M. Onnie,Natalie J. Prescott,Jeremy D. Sanderson,Christopher G. Mathew,Jamie Barbour,M. Khalid Mohiuddin,Catherine E. Todhunter,John C. Mansfield,Tariq Ahmad,Fraser Cummings,Derek P. Jewell,John Webster,Morris J. Brown,G. Mark Lathrop,John M. C. Connell,Anna F. Dominiczak,Carolina A. Braga Marcano,Beverley Burke,Richard Dobson,Johannie Gungadoo,Kate L. Lee,Patricia B. Munroe,Stephen Newhouse,Abiodun Onipinla,Chris Wallace,Mingzhan Xue,Mark J. Caulfield,Martin Farrall,Anne Barton,Ian N. Bruce,Hannah Donovan,Steve Eyre,Paul D. Gilbert,Samantha L. Hider,Anne Hinks,Sally John,Catherine Potter,Alan J. Silman,Deborah P M Symmons,Wendy Thomson,Jane Worthington,David B. Dunger,Barry Widmer,Timothy M. Frayling,Rachel M. Freathy,Hana Lango,John R. B. Perry,Beverley M. Shields,Michael N. Weedon,Andrew T. Hattersley,Graham A. Hitman,Mark Walker,Kate S. Elliott,Christopher J. Groves,Cecilia M. Lindgren,Nigel W. Rayner,Nicholas J. Timpson,Eleftheria Zeggini,Melanie J. Newport,Giorgio Sirugo,Emily J. Lyons,Fredrik O. Vannberg,Adrian V. S. Hill,Linda A. Bradbury,C Farrar,J J Pointon,Paul Wordsworth,Matthew A. Brown,Jayne A. Franklyn,Joanne M. Heward,Matthew J. Simmonds,Stephen C. L. Gough,Sheila Seal,Michael R. Stratton,Nazneen Rahman,Maria Ban,An Goris,Stephen Sawcer,Alastair Compston,David J. Conway,Muminatou Jallow,Kirk A. Rockett,Suzannah Bumpstead,Amy Chaney,Kate Downes,Mohammed J. R. Ghori,Rhian Gwilliam,Sarah E. Hunt,Michael Inouye,Andrew Keniry,Emma King,Ralph McGinnis,Simon C. Potter,Rathi Ravindrarajah,Pamela Whittaker,Claire Widden,David Withers,Niall Cardin,Teresa Ferreira,Joanne Pereira-Gale,Ingileif B. Hallgrímsdóttir,Bryan Howie,Zhan Su,Yik Ying Teo,Damjan Vukcevic,David Bentley,A Compston +195 more
TL;DR: This study has demonstrated that careful use of a shared control group represents a safe and effective approach to GWA analyses of multiple disease phenotypes; generated a genome-wide genotype database for future studies of common diseases in the British population; and shown that, provided individuals with non-European ancestry are excluded, the extent of population stratification in theBritish population is generally modest.
Journal ArticleDOI
Finding the missing heritability of complex diseases
Teri A. Manolio,Francis S. Collins,Nancy J. Cox,David Goldstein,Lucia A. Hindorff,David J. Hunter,Mark I. McCarthy,Erin M. Ramos,Lon R. Cardon,Aravinda Chakravarti,Judy H. Cho,Alan E. Guttmacher,Augustine Kong,Leonid Kruglyak,Leonid Kruglyak,Elaine R. Mardis,Charles N. Rotimi,Montgomery Slatkin,David Valle,Alice S. Whittemore,Michael Boehnke,Andrew G. Clark,Evan E. Eichler,Greg Gibson,Jonathan L. Haines,Trudy F. C. Mackay,Steven A. McCarroll,Peter M. Visscher +27 more
TL;DR: This paper examined potential sources of missing heritability and proposed research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.
Journal ArticleDOI
A haplotype map of the human genome
John W. Belmont,Andrew Boudreau,Suzanne M. Leal,Paul Hardenbol,Shiran Pasternak,David A. Wheeler,Thomas D. Willis,Fuli Yu,Huanming Yang,Gao Yang,H. B. Hu,Weitao Hu,Chaohua Li,Wei Lin,Siqi Liu,Hao Pan,Xiaoli Tang,Jian Wang,Wei Wang,Jun Yu,Bo Zhang,Qingrun Zhang,Hongbin Zhao,Jun Zhou,Rachel Barry,Brendan Blumenstiel,Amy L. Camargo,Matthew Defelice,Maura Faggart,Mary Goyette,Supriya Gupta,Jamie Moore,Huy Nguyen,Melissa Parkin,Jessica Roy,Erich Stahl,Ellen Winchester,David Altshuler,Yan Shen,Zhijian Yao,Wei Huang,Xun Chu,Yungang He,Li Jin,Yangfan Liu,Yayun Shen,Weiwei Sun,Haifeng Wang,Yi Wang,Ying Wang,Xiaoyan Xiong,Liang Xu,Mary M.Y. Waye,Stephen Kwok-Wing Tsui,Hong Xue,J. Tze Fei Wong,Launa M. Galver,Jian-Bing Fan,Sarah S. Murray,Arnold Oliphant,Mark S. Chee,Alexandre Montpetit,Fanny Chagnon,Vincent Ferretti,Martin Leboeuf,Jean François Olivier,Michael S. Phillips,Stéphanie Roumy,Clémentine Sallée,Andrei Verner,Thomas J. Hudson,Kelly A. Frazer,Dennis G. Ballinger,David R. Cox,David A. Hinds,Laura L. Stuve,Pui-Yan Kwok,Dongmei Cai,Daniel C. Koboldt,Raymond D. Miller,Ludmila Pawlikowska,Patricia Taillon-Miller,Ming Xiao,Lap-Chee Tsui,William Mak,Pak C. Sham,You-Qiang Song,Paul K.H. Tam,Yusuke Nakamura,Takahisa Kawaguchi,Takuya Kitamoto,Takashi Morizono,Atsushi Nagashima,Yozo Ohnishi,Akihiro Sekine,Toshihiro Tanaka,Panos Deloukas,Christine P. Bird,Marcos Delgado,Emmanouil T. Dermitzakis,Rhian Gwilliam,Sarah E. Hunt,Jonathan Morrison,Don Powell,Barbara E. Stranger,Pamela Whittaker,David R. Bentley,Paul I.W. de Bakker,Jeffrey C. Barrett,Ben Fry,Julian Maller,Steve McCarroll,Nick Patterson,Itsik Pe'er,Shaun Purcell,Daniel J. Richter,Pardis C. Sabeti,Richa Saxena,Stephen F. Schaffner,Patrick Varilly,Lincoln Stein,Lalitha Krishnan,Albert V. Smith,Gudmundur A. Thorisson,Aravinda Chakravarti,Peter E. Chen,David J. Cutler,Carl S. Kashuk,Shin Lin,Gonçalo R. Abecasis,Weihua Guan,Heather M. Munro,Zhaohui S. Qin,Daryl J. Thomas,Gilean McVean,Leonardo Bottolo,Susana Eyheramendy,Colin Freeman,Jonathan Marchini,Simon Myers,Chris C. A. Spencer,Matthew Stephens,Peter Donnelly,Lon R. Cardon,Geraldine M. Clarke,David M. Evans,Andrew P. Morris,Bruce S. Weir,Tatsuhiko Tsunoda,James C. Mullikin,Stephen T. Sherry,Michael Feolo,Houcan Zhang,Changqing Zeng,Hui Zhao,Ichiro Matsuda,Yoshimitsu Fukushima,Darryl Macer,Eiko Suda,Charles N. Rotimi,Clement Adebamowo,Ike Ajayi,Toyin Aniagwu,Patricia A. Marshall,Chibuzor Nkwodimmah,Charmaine D.M. Royal,Mark Leppert,Missy Dixon,Andy Peiffer,Renzong Qiu,Alastair Kent,Kazuto Kato,Norio Niikawa,Isaac F. Adewole,Bartha Maria Knoppers,Morris W. Foster,Ellen Wright Clayton,Jessica Watkin,Richard A. Gibbs,Donna M. Muzny,Lynne V. Nazareth,Erica Sodergren,George M. Weinstock,Imtiaz Yakub,Stacey Gabriel,Robert C. Onofrio,Liuda Ziaugra,Bruce W. Birren,Mark J. Daly,Richard K. Wilson,Lucinda Fulton,Jane Rogers,John Burton,Nigel P. Carter,C M Clee,Mark Griffiths,Matthew C. Jones,Kirsten McLay,Robert W. Plumb,Mark T. Ross,Sarah Sims,David Willey,Zhu Chen,Hua Han,L. Kang,Martin Godbout,John C. Wallenburg,Paul L'Archevêque,Guy Bellemare,Koji Saeki,Hongguang Wang,Daochang An,Hongbo Fu,Qing Li,Zhen Wang,Renwu Wang,Arthur L. Holden,Lisa D. Brooks,Jean E. McEwen,Christianne R. Bird,Mark S. Guyer,Patrick J. Nailer,Vivian Ota Wang,Jane Peterson,Michael Shi,Jack Spiegel,Lawrence M. Sung,Jonathan Witonsky,Lynn F. Zacharia,Francis S. Collins,Karen Kennedy,Ruth Jamieson,John Stewart +232 more
TL;DR: A public database of common variation in the human genome: more than one million single nucleotide polymorphisms for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
Journal ArticleDOI
A second generation human haplotype map of over 3.1 million SNPs
Kelly A. Frazer,Dennis G. Ballinger,David R. Cox,David A. Hinds,Laura L. Stuve,Richard A. Gibbs,John W. Belmont,Andrew Boudreau,Paul Hardenbol,Suzanne M. Leal,Shiran Pasternak,David A. Wheeler,Thomas D. Willis,Fuli Yu,Huanming Yang,Changqing Zeng,Gao Yang,H. B. Hu,Weitao Hu,Chaohua Li,Wei Lin,Siqi Liu,Hao Pan,Xiaoli Tang,Jian Wang,Wei Wang,Jun Yu,Bo Zhang,Qingrun Zhang,Hongbin Zhao,Hui Zhao,Jun Zhou,Stacey Gabriel,Rachel Barry,Brendan Blumenstiel,Amy L. Camargo,Matthew Defelice,Maura Faggart,Mary Goyette,Supriya Gupta,Jamie Moore,Huy Nguyen,Robert C. Onofrio,Melissa Parkin,Jessica Roy,Erich Stahl,Ellen Winchester,Liuda Ziaugra,David Altshuler,Yan Shen,Zhijian Yao,Wei Huang,Xun Chu,Yungang He,Li Jin,Yangfan Liu,Yayun Shen,Weiwei Sun,Haifeng Wang,Yi Wang,Ying Wang,Xiaoyan Xiong,Liang Xu,Mary M.Y. Waye,Stephen Kwok-Wing Tsui,Hong Xue,J. Tze Fei Wong,Luana Galver,Jian-Bing Fan,Kevin L. Gunderson,Sarah S. Murray,Arnold Oliphant,Mark S. Chee,Alexandre Montpetit,Fanny Chagnon,Vincent Ferretti,Martin Leboeuf,Jean François Olivier,Michael S. Phillips,Stéphanie Roumy,Clémentine Sallée,Andrei Verner,Thomas J. Hudson,Pui-Yan Kwok,Dongmei Cai,Daniel C. Koboldt,Raymond D. Miller,Ludmila Pawlikowska,Patricia Taillon-Miller,Ming Xiao,Lap-Chee Tsui,William Mak,Qiang Song You,Paul K.H. Tam,Yusuke Nakamura,Takahisa Kawaguchi,Takuya Kitamoto,Takashi Morizono,Atsushi Nagashima,Yozo Ohnishi,Akihiro Sekine,Toshihiro Tanaka,Tatsuhiko Tsunoda,Panos Deloukas,Christine P. Bird,Marcos Delgado,Emmanouil T. Dermitzakis,Rhian Gwilliam,Sarah E. Hunt,Jonathan J. Morrison,Don Powell,Barbara E. Stranger,Pamela Whittaker,David R. Bentley,Mark J. Daly,Paul I.W. de Bakker,Jeffrey C. Barrett,Yves Chretien,Julian Maller,Steve McCarroll,Nick Patterson,Itsik Pe'er,Alkes L. Price,Shaun Purcell,Daniel J. Richter,Pardis C. Sabeti,Richa Saxena,Stephen F. Schaffner,Pak C. Sham,Patrick Varilly,Lincoln Stein,Lalitha Krishnan,Albert V. Smith,Marcela K. Tello-Ruiz,Gudmundur A. Thorisson,Aravinda Chakravarti,Peter E. Chen,David J. Cutler,Carl S. Kashuk,Shin Lin,Gonçalo R. Abecasis,Weihua Guan,Yun Li,Heather M. Munro,Zhaohui S. Qin,Daryl J. Thomas,Gilean McVean,Adam Auton,Leonardo Bottolo,Niall Cardin,Susana Eyheramendy,Colin Freeman,Jonathan Marchini,Simon Myers,Chris C. A. Spencer,Matthew Stephens,Peter Donnelly,Lon R. Cardon,Geraldine M. Clarke,David M. Evans,Andrew P. Morris,Bruce S. Weir,Todd A. Johnson,James C. Mullikin,Stephen T. Sherry,Michael Feolo,Andrew D. Skol,Houcan Zhang,Ichiro Matsuda,Yoshimitsu Fukushima,Darryl Macer,Eiko Suda,Charles N. Rotimi,Clement Adebamowo,Ike Ajayi,Toyin Aniagwu,Patricia A. Marshall,Chibuzor Nkwodimmah,Charmaine D.M. Royal,Mark Leppert,Missy Dixon,Andy Peiffer,Renzong Qiu,Alastair Kent,Kazuto Kato,Norio Niikawa,Isaac F. Adewole,Bartha Maria Knoppers,Morris W. Foster,Ellen Wright Clayton,Jessica Watkin,Donna M. Muzny,Lynne V. Nazareth,Erica Sodergren,George M. Weinstock,Imtaz Yakub,Bruce W. Birren,Richard K. Wilson,Lucinda Fulton,Jane Rogers,John Burton,Nigel P. Carter,C M Clee,Mark Griffiths,Matthew C. Jones,Kirsten McLay,Robert W. Plumb,Mark T. Ross,Sarah Sims,David Willey,Zhu Chen,Hua Han,Le Kang,Martin Godbout,John C. Wallenburg,Paul L'Archevêque,Guy Bellemare,Koji Saeki,Hongguang Wang,Daochang An,Hongbo Fu,Qing Li,Zhen Wang,Renwu Wang,Arthur L. Holden,Lisa D. Brooks,Jean E. McEwen,Mark S. Guyer,Vivian Ota Wang,Jane Peterson,Michael Shi,Jack Spiegel,Lawrence M. Sung,Lynn F. Zacharia,Francis S. Collins,Karen Kennedy,Ruth Jamieson,John Stewart +237 more
TL;DR: The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
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