PhenoScanner: a database of human genotype-phenotype associations.
James R Staley,James A. Blackshaw,Mihir A Kamat,Steve Ellis,Praveen Surendran,Benjamin B. Sun,Dirk S. Paul,Daniel F. Freitag,Stephen Burgess,John Danesh,Robin Young,Adam S. Butterworth +11 more
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TLDR
PhenoScanner is a curated database of publicly available results from large-scale genetic association studies that aims to facilitate ‘phenome scans’, the cross-referencing of genetic variants with many phenotypes, to help aid understanding of disease pathways and biology.Abstract:
This work was supported by the UK Medical Research Council [G66840, G0800270], Pfizer [G73632], British Heart Foundation [SP/09/002], UK National Institute for Health Research Cambridge Biomedical Research Centre, European Research Council [268834], and European Commission Framework Programme 7 [HEALTH-F2-2012-279233].read more
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The MR-Base platform supports systematic causal inference across the human phenome
Gibran Hemani,Jie Zheng,Benjamin Elsworth,Kaitlin H Wade,Valeriia Haberland,Denis Baird,Charles Laurin,Stephen Burgess,Jack Bowden,Ryan Langdon,Vanessa Y Tan,James Yarmolinsky,Hashem A Shihab,Nicholas J. Timpson,David M. Evans,David M. Evans,Caroline L Relton,Richard M. Martin,George Davey Smith,Tom R. Gaunt,Philip C Haycock +20 more
TL;DR: MR-Base is a platform that integrates a curated database of complete GWAS results (no restrictions according to statistical significance) with an application programming interface, web app and R packages that automate 2SMR, and includes several sensitivity analyses for assessing the impact of horizontal pleiotropy and other violations of assumptions.
Journal ArticleDOI
Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians
TL;DR: In this article, the authors provide explanations of the information typically reported in Mendelian randomisation studies that can be used to assess the plausibility of these assumptions and guidance on how to interpret findings from such studies in the context of other sources of evidence.
Journal ArticleDOI
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
William J. Astle,Heather Elding,Heather Elding,Tao Jiang,Dave Allen,Dace Ruklisa,Dace Ruklisa,Alice L. Mann,Daniel Mead,Heleen J. Bouman,Fernando Riveros-Mckay,Myrto Kostadima,Myrto Kostadima,Myrto Kostadima,John J. Lambourne,John J. Lambourne,Suthesh Sivapalaratnam,Suthesh Sivapalaratnam,Kate Downes,Kate Downes,Kousik Kundu,Kousik Kundu,Lorenzo Bomba,Kim Berentsen,John Bradley,John Bradley,Louise C. Daugherty,Louise C. Daugherty,Olivier Delaneau,Kathleen Freson,Stephen F. Garner,Stephen F. Garner,Luigi Grassi,Luigi Grassi,Jose A. Guerrero,Jose A. Guerrero,Matthias Haimel,Eva M. Janssen-Megens,Anita Kaan,Mihir A Kamat,Bowon Kim,Amit Mandoli,Jonathan Marchini,Jonathan Marchini,Joost H.A. Martens,Stuart Meacham,Stuart Meacham,Karyn Megy,Karyn Megy,Jared O'Connell,Jared O'Connell,Romina Petersen,Romina Petersen,Nilofar Sharifi,S.M. Sheard,James R Staley,Salih Tuna,Martijn van der Ent,Klaudia Walter,Shuang-Yin Wang,Eleanor Wheeler,Steven P. Wilder,Valentina Iotchkova,Valentina Iotchkova,Carmel Moore,Jennifer G. Sambrook,Jennifer G. Sambrook,Hendrik G. Stunnenberg,Emanuele Di Angelantonio,Emanuele Di Angelantonio,Emanuele Di Angelantonio,Stephen Kaptoge,Stephen Kaptoge,Taco W. Kuijpers,Enrique Carrillo-de-Santa-Pau,David Juan,Daniel Rico,Alfonso Valencia,Lu Chen,Lu Chen,Bing Ge,Louella Vasquez,Tony Kwan,Diego Garrido-Martín,Stephen Watt,Ying Yang,Roderic Guigó,Stephan Beck,Dirk S. Paul,Dirk S. Paul,Tomi Pastinen,David Bujold,Guillaume Bourque,Mattia Frontini,Mattia Frontini,Mattia Frontini,John Danesh,David J. Roberts,David J. Roberts,Willem H. Ouwehand,Adam S. Butterworth,Adam S. Butterworth,Adam S. Butterworth,Nicole Soranzo +103 more
TL;DR: A genome-wide association analysis in the UK Biobank and INTERVAL studies is performed, providing evidence of shared genetic pathways linking blood cell indices with complex pathologies, including autoimmune diseases, schizophrenia, and coronary heart disease and evidence suggesting previously reported population associations betweenBlood cell indices and cardiovascular disease may be non-causal.
Journal ArticleDOI
Genomic atlas of the human plasma proteome.
Benjamin B. Sun,Joseph C. Maranville,James E. Peters,James E. Peters,David Stacey,James R Staley,James A. Blackshaw,Stephen Burgess,Tao Jiang,Ellie Paige,Ellie Paige,Praveen Surendran,Clare Oliver-Williams,Mihir A Kamat,Bram P. Prins,Sheri K. Wilcox,Erik S Zimmerman,An Chi,Narinder Bansal,Narinder Bansal,Sarah L. Spain,Angela M. Wood,Nicholas W. Morrell,Nicholas W. Morrell,John Bradley,Nebojsa Janjic,David J. Roberts,David J. Roberts,Willem H. Ouwehand,John A. Todd,Nicole Soranzo,Karsten Suhre,Dirk S. Paul,Caroline S. Fox,Robert M. Plenge,John Danesh,John Danesh,Heiko Runz,Adam S. Butterworth +38 more
TL;DR: The genetic architecture of the human plasma proteome in healthy blood donors from the INTERVAL study is characterized, and it is shown that protein quantitative trait loci overlap with gene expression quantitative traits, as well as with disease-associated loci, and evidence that protein biomarkers have causal roles in disease is found.
Journal ArticleDOI
MendelianRandomization: an R package for performing Mendelian randomization analyses using summarized data.
Olena O Yavorska,Stephen Burgess +1 more
TL;DR: MendelianRandomization is a software package for the R open-source software environment that performs Mendelian randomization analyses using summarized data to implement the inverse-variance weighted, MR-Egger and weighted median methods for multiple genetic variants.
References
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An integrated map of genetic variation from 1,092 human genomes
Gonçalo R. Abecasis,Adam Auton,Lisa D. Brooks,Mark A. DePristo,Richard Durbin,Robert E. Handsaker,Robert E. Handsaker,Hyun Min Kang,Gabor T. Marth,Gil McVean +9 more
TL;DR: It is shown that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites.
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Stephen T. Sherry,Minghong Ward,Michael Kholodov,Jonathan Baker,Lon Phan,Elizabeth M. Smigielski,Karl Sirotkin +6 more
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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.
Journal ArticleDOI
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Danielle Welter,Jacqueline A. L. MacArthur,Joannella Morales,Tony Burdett,Peggy Hall,Heather Junkins,Alan Klemm,Paul Flicek,Teri A. Manolio,Lucia A. Hindorff,Helen Parkinson +10 more
TL;DR: A number of recent improvements to theNHGRI Catalog of Published Genome-Wide Association Studies are presented, including novel ways for users to interact with the Catalog and changes to the curation infrastructure.
Journal ArticleDOI
The NCBI dbGaP database of genotypes and phenotypes.
Matthew D. Mailman,Michael Feolo,Yumi Jin,Masato Kimura,Kimberly A Tryka,Rinat Bagoutdinov,Luning Hao,Anne Kiang,Justin Paschall,Lon Phan,Natalia Popova,Stephanie Pretel,Lora Ziyabari,Moira Lee,Yu Shao,Zhen Y Wang,Karl Sirotkin,Minghong Ward,Michael Kholodov,Kerry L. Zbicz,Jeffrey M. Beck,Michael Kimelman,Sergey Shevelev,Don Preuss,Eugene Yaschenko,A S Graeff,James Ostell,Stephen T. Sherry +27 more
TL;DR: The dbGaP as discussed by the authors is a public repository for individual-level phenotype, exposure, genotype and sequence data and the associations between them, including documents, individual phenotypic variables, tables of trait data, sets of genotype data, computed phenotype-genotype associations, and groups of study subjects who have given similar consents for use of their data.
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