Gudmundur A Thorisson

Gudmundur A Thorisson

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Gudmundur A Thorisson

Gudmundur A Thorisson

Publications by authors named "Gudmundur A Thorisson"

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A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.

Authors:
Gudny A Arnadottir Gudmundur L Norddahl Steinunn Gudmundsdottir Arna B Agustsdottir Snaevar Sigurdsson Brynjar O Jensson Kristbjorg Bjarnadottir Fannar Theodors Stefania Benonisdottir Erna V Ivarsdottir Asmundur Oddsson Ragnar P Kristjansson Gerald Sulem Kristjan F Alexandersson Thorhildur Juliusdottir Kjartan R Gudmundsson Jona Saemundsdottir Adalbjorg Jonasdottir Aslaug Jonasdottir Asgeir Sigurdsson Paolo Manzanillo Sigurjon A Gudjonsson Gudmundur A Thorisson Olafur Th Magnusson Gisli Masson Kjartan B Orvar Hilma Holm Sigurdur Bjornsson Reynir Arngrimsson Daniel F Gudbjartsson Unnur Thorsteinsdottir Ingileif Jonsdottir Asgeir Haraldsson Patrick Sulem Kari Stefansson

Nat Commun 2018 10 25;9(1):4447. Epub 2018 Oct 25.

deCODE Genetics/Amgen, Inc., Reykjavik, Iceland.

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http://www.nature.com/articles/s41467-018-06964-x
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http://dx.doi.org/10.1038/s41467-018-06964-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202333PMC
October 2018

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

Authors:
Brynjar O Jensson Sif Hansdottir Gudny A Arnadottir Gerald Sulem Ragnar P Kristjansson Asmundur Oddsson Stefania Benonisdottir Hakon Jonsson Agnar Helgason Jona Saemundsdottir Olafur T Magnusson Gisli Masson Gudmundur A Thorisson Adalbjorg Jonasdottir Aslaug Jonasdottir Asgeir Sigurdsson Ingileif Jonsdottir Vigdis Petursdottir Jon R Kristinsson Daniel F Gudbjartsson Unnur Thorsteinsdottir Reynir Arngrimsson Patrick Sulem Gunnar Gudmundsson Kari Stefansson

BMC Med Genet 2017 11 14;18(1):129. Epub 2017 Nov 14.

deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-017-0490-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686906PMC
November 2017

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

Authors:
Gudny A Arnadottir Brynjar O Jensson Sigurdur E Marelsson Gerald Sulem Asmundur Oddsson Ragnar P Kristjansson Stefania Benonisdottir Sigurjon A Gudjonsson Gisli Masson Gudmundur A Thorisson Jona Saemundsdottir Olafur Th Magnusson Adalbjorg Jonasdottir Aslaug Jonasdottir Asgeir Sigurdsson Daniel F Gudbjartsson Unnur Thorsteinsdottir Reynir Arngrimsson Patrick Sulem Kari Stefansson

BMC Med Genet 2017 10 2;18(1):103. Epub 2017 Oct 2.

deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.

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http://dx.doi.org/10.1186/s12881-017-0466-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5623963PMC
October 2017

Quantifying the use of bioresources for promoting their sharing in scientific research.

Authors:
Laurence Mabile Raymond Dalgleish Gudmundur A Thorisson Mylène Deschênes Robert Hewitt Jane Carpenter Elena Bravo Mirella Filocamo Pierre Antoine Gourraud Jennifer R Harris Paul Hofman Francine Kauffmann Maria Angeles Muñoz-Fernàndez Markus Pasterk Anne Cambon-Thomsen

Gigascience 2013 May 1;2(1). Epub 2013 May 1.

Epidémiologie et analyses en santé publique, Faculté de médecine, UMR1027 INSERM-Université de Toulouse III, 37 allées Jules Guesde, Toulouse Cedex 7, F-31073, France.

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http://dx.doi.org/10.1186/2047-217X-2-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3655103PMC
May 2013

Semantically enabling a genome-wide association study database.

Authors:
Tim Beck Robert C Free Gudmundur A Thorisson Anthony J Brookes

J Biomed Semantics 2012 Dec 17;3(1). Epub 2012 Dec 17.

Department of Genetics, University of Leicester, University Road, Leicester, UK.

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http://dx.doi.org/10.1186/2041-1480-3-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3579732PMC
December 2012

VarioML framework for comprehensive variation data representation and exchange.

Authors:
Myles Byrne Ivo Fac Fokkema Owen Lancaster Tomasz Adamusiak Anni Ahonen-Bishopp David Atlan Christophe Béroud Michael Cornell Raymond Dalgleish Andrew Devereau George P Patrinos Morris A Swertz Peter Em Taschner Gudmundur A Thorisson Mauno Vihinen Anthony J Brookes Juha Muilu

BMC Bioinformatics 2012 Oct 3;13:254. Epub 2012 Oct 3.

Institute for Molecular Medicine Finland-FIMM, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1186/1471-2105-13-254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3507772PMC
October 2012

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information.

Authors:
Tomasz Adamusiak Helen Parkinson Juha Muilu Erik Roos Kasper Joeri van der Velde Gudmundur A Thorisson Myles Byrne Chao Pang Sirisha Gollapudi Vincent Ferretti Hans Hillege Anthony J Brookes Morris A Swertz

Hum Mutat 2012 May 4;33(5):867-73. Epub 2012 Apr 4.

EU-GEN2PHEN, and European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, United Kingdom.

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http://dx.doi.org/10.1002/humu.22070DOI Listing
May 2012

The role of a bioresource research impact factor as an incentive to share human bioresources.

Authors:
Anne Cambon-Thomsen Gudmundur A Thorisson Laurence Mabile

Nat Genet 2011 Jun;43(6):503-4

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http://dx.doi.org/10.1038/ng.831DOI Listing
June 2011

An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research.

Authors:
Adam J Webb Gudmundur A Thorisson Anthony J Brookes

Hum Mutat 2011 May 22;32(5):543-50. Epub 2011 Mar 22.

Department of Genetics, University of Leicester, University Road, Leicester, United Kingdom.

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http://dx.doi.org/10.1002/humu.21469DOI Listing
May 2011

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button.

Authors:
Morris A Swertz Martijn Dijkstra Tomasz Adamusiak Joeri K van der Velde Alexandros Kanterakis Erik T Roos Joris Lops Gudmundur A Thorisson Danny Arends George Byelas Juha Muilu Anthony J Brookes Engbert O de Brock Ritsert C Jansen Helen Parkinson

BMC Bioinformatics 2010 Dec 21;11 Suppl 12:S12. Epub 2010 Dec 21.

Genomics Coordination Center, Groningen Bioinformatics Center, University of Groningen & Department of Genetics, University Medical Center Groningen, P.O. Box 30001, 9700 RB Groningen, The Netherlands.

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http://www.biomedcentral.com/content/pdf/1471-2105-11-S12-S1
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http://www.biomedcentral.com/1471-2105/11/S12/S12
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http://dx.doi.org/10.1186/1471-2105-11-S12-S12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040526PMC
December 2010

Finding and sharing: new approaches to registries of databases and services for the biomedical sciences.

Authors:
Damian Smedley Paul Schofield Chao-Kung Chen Vassilis Aidinis Chrysanthi Ainali Jonathan Bard Rudi Balling Ewan Birney Andrew Blake Erik Bongcam-Rudloff Anthony J Brookes Gianni Cesareni Christina Chandras Janan Eppig Paul Flicek Georgios Gkoutos Simon Greenaway Michael Gruenberger Jean-Karim Hériché Andrew Lyall Ann-Marie Mallon Dawn Muddyman Florian Reisinger Martin Ringwald Nadia Rosenthal Klaus Schughart Morris Swertz Gudmundur A Thorisson Michael Zouberakis John M Hancock

Database (Oxford) 2010 Jul 6;2010:baq014. Epub 2010 Jul 6.

European Bioinformatics Institute, Genome Campus, Hinxton, Cambridgeshire, CB10 1SA.

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http://dx.doi.org/10.1093/database/baq014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2911849PMC
July 2010

Accreditation and attribution in data sharing.

Authors:
Gudmundur A Thorisson

Nat Biotechnol 2009 Nov;27(11):984-5

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http://dx.doi.org/10.1038/nbt1109-984bDOI Listing
November 2009

The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation.

Authors:
Anthony J Brookes Heikki Lehvaslaiho Juha Muilu Yasumasa Shigemoto Takashige Oroguchi Takeshi Tomiki Atsuhiro Mukaiyama Akihiko Konagaya Toshio Kojima Ituro Inoue Masako Kuroda Hiroshi Mizushima Gudmundur A Thorisson Debasis Dash Haseena Rajeevan Matthew W Darlison Mark Woon David Fredman Albert V Smith Martin Senger Kimitoshi Naito Hideaki Sugawara

Hum Mutat 2009 Jun;30(6):968-77

University of Leicester, Department of Genetics, Leicester, UK.

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http://dx.doi.org/10.1002/humu.20973DOI Listing
June 2009

HGVbaseG2P: a central genetic association database.

Authors:
Gudmundur A Thorisson Owen Lancaster Robert C Free Robert K Hastings Pallavi Sarmah Debasis Dash Samir K Brahmachari Anthony J Brookes

Nucleic Acids Res 2009 Jan 23;37(Database issue):D797-802. Epub 2008 Oct 23.

Department of Genetics, University of Leicester, University Road, Leicester, LE1 7RH, UK.

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http://dx.doi.org/10.1093/nar/gkn748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686551PMC
January 2009

Genotype-phenotype databases: challenges and solutions for the post-genomic era.

Authors:
Gudmundur A Thorisson Juha Muilu Anthony J Brookes

Nat Rev Genet 2009 Jan;10(1):9-18

Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK.

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http://dx.doi.org/10.1038/nrg2483DOI Listing
January 2009

A second generation human haplotype map of over 3.1 million SNPs.

Authors:
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 Yang Gao Haoran 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 B Gabriel Rachel Barry Brendan Blumenstiel Amy 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 K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R 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 You Qiang Song 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 Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon 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 Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L 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 L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):851-61

The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA.

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https://www.genome.gov/Pages/Newsroom/CurrentNewsReleases/In
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http://www.nature.com/doifinder/10.1038/nature06258
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http://dx.doi.org/10.1038/nature06258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689609PMC
October 2007

Genome-wide detection and characterization of positive selection in human populations.

Authors:
Pardis C Sabeti Patrick Varilly Ben Fry Jason Lohmueller Elizabeth Hostetter Chris Cotsapas Xiaohui Xie Elizabeth H Byrne Steven A McCarroll Rachelle Gaudet Stephen F Schaffner Eric S Lander 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 Yang Gao Haoran 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 B Gabriel Rachel Barry Brendan Blumenstiel Amy 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 K W Tsui Hong Xue J Tze-Fei Wong Luana M Galver Jian-Bing Fan Kevin Gunderson Sarah S Murray Arnold R 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 You Qiang Song 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 Hunt Jonathan Morrison Don Powell Barbara E Stranger Pamela Whittaker David R Bentley Mark J Daly Paul I W de Bakker Jeff Barrett Yves R Chretien Julian Maller Steve McCarroll Nick Patterson Itsik Pe'er Alkes Price Shaun Purcell Daniel J Richter Pardis Sabeti Richa Saxena Stephen F Schaffner Pak C Sham Patrick Varilly David Altshuler Lincoln D Stein Lalitha Krishnan Albert Vernon 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 Steve Qin Daryl J Thomas Gilean McVean Adam Auton Leonardo Bottolo Niall Cardin Susana Eyheramendy Colin Freeman Jonathan Marchini Simon Myers Chris Spencer Matthew Stephens Peter Donnelly Lon R Cardon Geraldine Clarke David M Evans Andrew P Morris Bruce S Weir Tatsuhiko Tsunoda Todd A Johnson James C Mullikin Stephen T Sherry Michael Feolo Andrew Skol Houcan Zhang Changqing Zeng Hui Zhao Ichiro Matsuda Yoshimitsu Fukushima Darryl R Macer Eiko Suda Charles N Rotimi Clement A Adebamowo Ike Ajayi Toyin Aniagwu Patricia A Marshall Chibuzor Nkwodimmah Charmaine D M Royal Mark F Leppert Missy Dixon Andy Peiffer Renzong Qiu Alastair Kent Kazuto Kato Norio Niikawa Isaac F Adewole Bartha M Knoppers Morris W Foster Ellen Wright Clayton Jessica Watkin Richard A Gibbs John W Belmont Donna Muzny Lynne Nazareth Erica Sodergren George M Weinstock David A Wheeler Imtaz Yakub Stacey B Gabriel Robert C Onofrio Daniel J Richter Liuda Ziaugra Bruce W Birren Mark J Daly David Altshuler Richard K Wilson Lucinda L Fulton Jane Rogers John Burton Nigel P Carter Christopher M Clee Mark Griffiths Matthew C Jones Kirsten McLay Robert W Plumb Mark T Ross Sarah K Sims David L 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 L Peterson Michael Shi Jack Spiegel Lawrence M Sung Lynn F Zacharia Francis S Collins Karen Kennedy Ruth Jamieson John Stewart

Nature 2007 Oct;449(7164):913-8

Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA.

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https://www.genome.gov/Pages/Newsroom/CurrentNewsReleases/Le
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http://www.nature.com/doifinder/10.1038/nature06250
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http://dx.doi.org/10.1038/nature06250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687721PMC
October 2007

The International HapMap Project Web site.

Authors:
Gudmundur A Thorisson Albert V Smith Lalitha Krishnan Lincoln D Stein

Genome Res 2005 Nov;15(11):1592-3

Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.

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http://dx.doi.org/10.1101/gr.4413105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1310647PMC
November 2005

The SNP Consortium website: past, present and future.

Authors:
Gudmundur A Thorisson Lincoln D Stein

Nucleic Acids Res 2003 Jan;31(1):124-7

Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC165499PMC
http://dx.doi.org/10.1093/nar/gkg052DOI Listing
January 2003