{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T16:51:32Z","timestamp":1776358292874,"version":"3.51.2"},"reference-count":55,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2012,12,27]],"date-time":"2012-12-27T00:00:00Z","timestamp":1356566400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.ploscompbiol.org"],"crossmark-restriction":false},"short-container-title":["PLoS Comput Biol"],"DOI":"10.1371\/journal.pcbi.1002822","type":"journal-article","created":{"date-parts":[[2012,12,27]],"date-time":"2012-12-27T21:10:18Z","timestamp":1356642618000},"page":"e1002822","update-policy":"https:\/\/doi.org\/10.1371\/journal.pcbi.corrections_policy","source":"Crossref","is-referenced-by-count":976,"title":["Chapter 11: Genome-Wide Association Studies"],"prefix":"10.1371","volume":"8","author":[{"given":"William S.","family":"Bush","sequence":"first","affiliation":[]},{"given":"Jason H.","family":"Moore","sequence":"additional","affiliation":[]}],"member":"340","published-online":{"date-parts":[[2012,12,27]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1126\/science.1110359","article-title":"Complement factor H variant increases the risk of age-related macular degeneration","volume":"308","author":"JL Haines","year":"2005","journal-title":"Science"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1126\/science.1110189","article-title":"Complement factor H polymorphism and age-related macular degeneration","volume":"308","author":"AO Edwards","year":"2005","journal-title":"Science"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1126\/science.1109557","article-title":"Complement factor H polymorphism in age-related macular degeneration","volume":"308","author":"RJ Klein","year":"2005","journal-title":"Science"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1182\/blood-2008-01-134247","article-title":"A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose","volume":"112","author":"GM Cooper","year":"2008","journal-title":"Blood"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","year":"2010","journal-title":"Nature"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"D107","DOI":"10.1093\/nar\/gkm967","article-title":"ORegAnno: an open-access community-driven resource for regulatory annotation","volume":"36","author":"OL Griffith","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/nature09298","article-title":"Integrating common and rare genetic variation in diverse human populations","volume":"467","author":"DM Altshuler","year":"2010","journal-title":"Nature"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1126\/science.2570460","article-title":"Identification of the cystic fibrosis gene: genetic analysis","volume":"245","author":"B Kerem","year":"1989","journal-title":"Science"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1038\/ng0592-99","article-title":"The Huntington's disease candidate region exhibits many different haplotypes","volume":"1","author":"ME MacDonald","year":"1992","journal-title":"Nat Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/nrg1521","article-title":"Genome-wide association studies for common diseases and complex traits","volume":"6","author":"JN Hirschhorn","year":"2005","journal-title":"Nat Rev Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1126\/science.8346443","article-title":"Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families","volume":"261","author":"EH Corder","year":"1993","journal-title":"Science"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1038\/79216","article-title":"The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes","volume":"26","author":"D Altshuler","year":"2000","journal-title":"Nat Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/S0168-9525(01)02410-6","article-title":"On the allelic spectrum of human disease","volume":"17","author":"DE Reich","year":"2001","journal-title":"Trends Genet"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"9362","DOI":"10.1073\/pnas.0903103106","article-title":"Potential etiologic and functional implications of genome-wide association loci for human diseases and traits","volume":"106","author":"LA Hindorff","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1038\/nature04226","article-title":"A haplotype map of the human genome","volume":"437","year":"2005","journal-title":"Nature"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1016\/j.ajhg.2010.03.003","article-title":"Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record","volume":"86","author":"MD Ritchie","year":"2010","journal-title":"Am J Hum Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1006\/geno.1995.9003","article-title":"A comparison of linkage disequilibrium measures for fine-scale mapping","volume":"29","author":"B Devlin","year":"1995","journal-title":"Genomics"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1086\/303069","article-title":"Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data","volume":"67","author":"D Fallin","year":"2000","journal-title":"Am J Hum Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/sj.ejhg.5202007","article-title":"Evaluation of coverage variation of SNP chips for genome-wide association studies","volume":"16","author":"M Li","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/978-1-61737-954-3_1","article-title":"Technological issues and experimental design of gene association studies","volume":"700","author":"JK Distefano","year":"2011","journal-title":"Methods Mol Biol"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/nature09270","article-title":"Biological, clinical and population relevance of 95 loci for blood lipids","volume":"466","author":"TM Teslovich","year":"2010","journal-title":"Nature"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1586\/erm.10.77","article-title":"Genes associated with multiple sclerosis: 15 and counting","volume":"10","author":"M Habek","year":"2010","journal-title":"Expert Rev Mol Diagn"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1002\/ana.20703","article-title":"Diagnostic criteria for multiple sclerosis: 2005 revisions to the \u201cMcDonald Criteria\u201d","volume":"58","author":"CH Polman","year":"2005","journal-title":"Ann Neurol"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1016\/j.ophtha.2010.02.033","article-title":"Evaluation of the age-related eye disease study clinical lens grading system AREDS report No. 31","volume":"117","author":"EY Chew","year":"2010","journal-title":"Ophthalmology"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"2016","DOI":"10.1161\/CIRCULATIONAHA.110.948828","article-title":"Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science","volume":"122","author":"JC Denny","year":"2010","journal-title":"Circulation"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/j.1751-7141.2009.00055.x","article-title":"Quantification of the clinical modifiers impacting high-density lipoprotein cholesterol in the community: Personalized Medicine Research Project","volume":"13","author":"RA Wilke","year":"2010","journal-title":"Prev Cardiol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1136\/jamia.2010.004366","article-title":"Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease","volume":"17","author":"IJ Kullo","year":"2010","journal-title":"J Am Med Inform Assoc"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"637","DOI":"10.2217\/pgs.10.13","article-title":"Biobanking and pharmacogenomics","volume":"11","author":"CA McCarty","year":"2010","journal-title":"Pharmacogenomics"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1093\/bib\/3.2.146","article-title":"Genetic association studies: design, analysis and interpretation","volume":"3","author":"CM Lewis","year":"2002","journal-title":"Brief Bioinform"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1002\/gepi.20217","article-title":"Genetic model testing and statistical power in population-based association studies of quantitative traits","volume":"31","author":"G Lettre","year":"2007","journal-title":"Genet Epidemiol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1093\/genetics\/164.4.1567","article-title":"Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies","volume":"164","author":"D Falush","year":"2003","journal-title":"Genetics"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1038\/ng1847","article-title":"Principal components analysis corrects for stratification in genome-wide association studies","volume":"38","author":"AL Price","year":"2006","journal-title":"Nat Genet"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1002\/sim.4780090710","article-title":"More powerful procedures for multiple significance testing","volume":"9","author":"Y Hochberg","year":"1990","journal-title":"Stat Med"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/ajmg.b.30650","article-title":"Controlling false discoveries in genetic studies","volume":"147B","author":"EJ van den Oord","year":"2008","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"S Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1186\/1471-2105-9-309","article-title":"PRESTO: rapid calculation of order statistic distributions and multiple-testing adjusted P-values via permutation for one and two-stage genetic association studies","volume":"9","author":"BL Browning","year":"2008","journal-title":"BMC Bioinformatics"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1093\/bioinformatics\/btq399","article-title":"PERMORY: an LD-exploiting permutation test algorithm for powerful genome-wide association testing","volume":"26","author":"R Pahl","year":"2010","journal-title":"Bioinformatics"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/gepi.20297","article-title":"Estimation of significance thresholds for genomewide association scans","volume":"32","author":"F Dudbridge","year":"2008","journal-title":"Genet Epidemiol"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1001\/jama.291.13.1642","article-title":"STUDENTJAMA. The challenges of whole-genome approaches to common diseases","volume":"291","author":"JH Moore","year":"2004","journal-title":"JAMA"},{"key":"ref40","first-page":"253","article-title":"Use of biological knowledge to inform the analysis of gene-gene interactions involved in modulating virologic failure with efavirenz-containing treatment regimens in art-naive actg clinical trials participants","author":"BJ Grady","year":"2011","journal-title":"Pac Symp Biocomput"},{"key":"ref41","first-page":"368","article-title":"Biofilter: a knowledge-integration system for the multi-locus analysis of genome-wide association studies","author":"WS Bush","year":"2009","journal-title":"Pac Symp Biocomput"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"3275","DOI":"10.1093\/bioinformatics\/btp596","article-title":"INTERSNP: genome-wide interaction analysis guided by a priori information","volume":"25","author":"C Herold","year":"2009","journal-title":"Bioinformatics"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1038\/447655a","article-title":"Replicating genotype-phenotype associations","volume":"447","author":"SJ Chanock","year":"2007","journal-title":"Nature"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1086\/512821","article-title":"Overcoming the winner's curse: estimating penetrance parameters from case-control data","volume":"80","author":"S Zollner","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1038\/ng.74","article-title":"Common variants in the GDF5-UQCC region are associated with variation in human height","volume":"40","author":"S Sanna","year":"2008","journal-title":"Nat Genet"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/ng.76","article-title":"Newly identified loci that influence lipid concentrations and risk of coronary artery disease","volume":"40","author":"CJ Willer","year":"2008","journal-title":"Nat Genet"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"191","DOI":"10.2217\/14622416.10.2.191","article-title":"Meta-analysis in genome-wide association studies","volume":"10","author":"E Zeggini","year":"2009","journal-title":"Pharmacogenomics"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1037\/1082-989X.11.2.193","article-title":"Assessing heterogeneity in meta-analysis: Q statistic or I2 index?","volume":"11","author":"TB Huedo-Medina","year":"2006","journal-title":"Psychol Methods"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1093\/ije\/dyn204","article-title":"Commentary: Heterogeneity in meta-analysis should be expected and appropriately quantified","volume":"37","author":"JP Higgins","year":"2008","journal-title":"Int J Epidemiol"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1146\/annurev.genom.9.081307.164242","article-title":"Genotype imputation","volume":"10","author":"Y Li","year":"2009","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/ng2088","article-title":"A new multipoint method for genome-wide association studies by imputation of genotypes","volume":"39","author":"J Marchini","year":"2007","journal-title":"Nat Genet"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"e1000279","DOI":"10.1371\/journal.pgen.1000279","article-title":"Practical issues in imputation-based association mapping","volume":"4","author":"Y Guan","year":"2008","journal-title":"PLoS Genet"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"e1000529","DOI":"10.1371\/journal.pgen.1000529","article-title":"A flexible and accurate genotype imputation method for the next generation of genome-wide association studies","volume":"5","author":"BN Howie","year":"2009","journal-title":"PLoS Genet"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1186\/1753-6561-3-s7-s5","article-title":"Assessment of genotype imputation methods","volume":"3 Suppl 7","author":"JM Biernacka","year":"2009","journal-title":"BMC Proc"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.ajhg.2009.01.005","article-title":"A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals","volume":"84","author":"BL Browning","year":"2009","journal-title":"Am J Hum Genet"}],"container-title":["PLoS Computational Biology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pcbi.1002822","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T19:03:56Z","timestamp":1644001436000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pcbi.1002822"}},"subtitle":[],"editor":[{"given":"Fran","family":"Lewitter","sequence":"first","affiliation":[]},{"given":"Maricel","family":"Kann","sequence":"additional","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2012,12,27]]},"references-count":55,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2012,12,27]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pcbi.1002822","relation":{},"ISSN":["1553-7358"],"issn-type":[{"value":"1553-7358","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,27]]}}}