{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T02:13:40Z","timestamp":1790302420088,"version":"4.1.0"},"update-to":[{"DOI":"10.1371\/journal.pgen.1007501","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T00:00:00Z","timestamp":1534118400000}}],"reference-count":61,"publisher":"Public Library of Science (PLoS)","issue":"8","license":[{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["U01- DE020078"],"award-info":[{"award-number":["U01- DE020078"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01-DE027023"],"award-info":[{"award-number":["R01-DE027023"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R01-DE016148"],"award-info":[{"award-number":["R01-DE016148"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["102215\/2\/13\/2"],"award-info":[{"award-number":["102215\/2\/13\/2"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011696","name":"Scar Free Foundation","doi-asserted-by":"publisher","award":["13\/SW\/0064"],"award-info":[{"award-number":["13\/SW\/0064"]}],"id":[{"id":"10.13039\/100011696","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MC_UU_12013"],"award-info":[{"award-number":["MC_UU_12013"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1007501","type":"journal-article","created":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T13:25:43Z","timestamp":1533129943000},"page":"e1007501","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":50,"title":["Investigating the shared genetics of non-syndromic cleft lip\/palate and facial morphology"],"prefix":"10.1371","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2819-9686","authenticated-orcid":true,"given":"Laurence J.","family":"Howe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myoung Keun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2906-4035","authenticated-orcid":true,"given":"Gemma C.","family":"Sharp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1407-8314","authenticated-orcid":true,"given":"George","family":"Davey Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"St Pourcain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1897-1131","authenticated-orcid":true,"given":"John R.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8541-2519","authenticated-orcid":true,"given":"Kerstin U.","family":"Ludwig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Mangold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2648-2832","authenticated-orcid":true,"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Feingold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5594-0740","authenticated-orcid":true,"given":"Alexei","family":"Zhurov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evie","family":"Stergiakouli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Sandy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5449-5318","authenticated-orcid":true,"given":"Stephen","family":"Richmond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9467-4556","authenticated-orcid":true,"given":"Seth M.","family":"Weinberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0920-1055","authenticated-orcid":true,"given":"Gibran","family":"Hemani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah J.","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2018,8,1]]},"reference":[{"issue":"3","key":"ref1","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/nrg2933","article-title":"Cleft lip and palate: understanding genetic and environmental influences","volume":"12","author":"MJ Dixon","year":"2011","journal-title":"Nature Reviews Genetics"},{"issue":"4","key":"ref2","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1034\/j.1399-0004.2002.610402.x","article-title":"Gene\/environment causes of cleft lip and\/or palate","volume":"61","author":"J Murray","year":"2002","journal-title":"Clinical Genetics"},{"issue":"9","key":"ref3","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1038\/ng.2360","article-title":"Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci","volume":"44","author":"KU Ludwig","year":"2012","journal-title":"Nature Genetics"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"14364","DOI":"10.1038\/ncomms14364","article-title":"Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity","volume":"8","author":"Y Yu","year":"2017","journal-title":"Nature Communications"},{"issue":"3","key":"ref5","doi-asserted-by":"crossref","first-page":"e1005914","DOI":"10.1371\/journal.pgen.1005914","article-title":"Meta-analysis reveals genome-wide significance at 15q13 for nonsyndromic clefting of both the lip and the palate, and functional analyses implicate GREM1 as a plausible causative gene","volume":"12","author":"KU Ludwig","year":"2016","journal-title":"PLoS Genetics"},{"issue":"4","key":"ref6","first-page":"829","article-title":"Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip\u00b1cleft palate and cleft palate only","volume":"26","author":"KU Ludwig","year":"2017","journal-title":"Human Molecular Genetics"},{"issue":"13","key":"ref7","first-page":"2862","article-title":"A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24. 2, 17q23 and 19q13","volume":"25","author":"EJ Leslie","year":"2016","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"ref8","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng.506","article-title":"Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate","volume":"42","author":"E Mangold","year":"2010","journal-title":"Nature Genetics"},{"issue":"6","key":"ref9","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/ng.580","article-title":"A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4","volume":"42","author":"TH Beaty","year":"2010","journal-title":"Nature Genetics"},{"issue":"3","key":"ref10","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/j.ajhg.2011.12.021","article-title":"Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position","volume":"90","author":"L Paternoster","year":"2012","journal-title":"The American Journal of Human Genetics"},{"issue":"9","key":"ref11","doi-asserted-by":"crossref","first-page":"e1002932","DOI":"10.1371\/journal.pgen.1002932","article-title":"A genome-wide association study identifies five loci influencing facial morphology in Europeans","volume":"8","author":"F Liu","year":"2012","journal-title":"PLoS Genetics"},{"issue":"8","key":"ref12","doi-asserted-by":"crossref","first-page":"e1006149","DOI":"10.1371\/journal.pgen.1006149","article-title":"Genome-wide association study reveals multiple loci influencing normal human facial morphology","volume":"12","author":"JR Shaffer","year":"2016","journal-title":"PLoS Genetics"},{"issue":"8","key":"ref13","doi-asserted-by":"crossref","first-page":"e1006174","DOI":"10.1371\/journal.pgen.1006174","article-title":"Genomewide association study of African children identifies association of SCHIP1 and PDE8A with facial size and shape","volume":"12","author":"JB Cole","year":"2016","journal-title":"PLoS Genetics"},{"key":"ref14","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms11616","article-title":"A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation","volume":"7","author":"K Adhikari","year":"2016","journal-title":"Nature Communications"},{"issue":"11","key":"ref15","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1038\/ejhg.2011.110","article-title":"Genetic determination of human facial morphology: links between cleft-lips and normal variation","volume":"19","author":"S Boehringer","year":"2011","journal-title":"European Journal of Human Genetics"},{"issue":"12","key":"ref16","doi-asserted-by":"crossref","first-page":"e1003375","DOI":"10.1371\/journal.pcbi.1003375","article-title":"Detecting genetic association of common human facial morphological variation using high density 3D image registration","volume":"9","author":"S Peng","year":"2013","journal-title":"PLoS Computational Biology"},{"issue":"3","key":"ref17","doi-asserted-by":"crossref","first-page":"e1003348","DOI":"10.1371\/journal.pgen.1003348","article-title":"Power and predictive accuracy of polygenic risk scores","volume":"9","author":"F Dudbridge","year":"2013","journal-title":"PLoS Genetics"},{"issue":"2","key":"ref18","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1093\/genetics\/35.2.212","article-title":"Heritability of threshold characters","volume":"35","author":"ER Dempster","year":"1950","journal-title":"Genetics"},{"issue":"1","key":"ref19","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1111\/j.1469-1809.1965.tb00500.x","article-title":"The inheritance of liability to certain diseases, estimated from the incidence among relatives","volume":"29","author":"DS Falconer","year":"1965","journal-title":"Annals of Human Genetics"},{"issue":"3","key":"ref20","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1002\/tera.1420140302","article-title":"The multifactorial\/threshold concept\u2014uses and misuses","volume":"14","author":"F Fraser","year":"1976","journal-title":"Teratology"},{"issue":"1","key":"ref21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/ije\/dyg070","article-title":"\u2018Mendelian randomization\u2019: can genetic epidemiology contribute to understanding environmental determinants of disease?","volume":"32","author":"G Davey Smith","year":"2003","journal-title":"International Journal of Epidemiology"},{"issue":"4","key":"ref22","doi-asserted-by":"crossref","first-page":"965","DOI":"10.3945\/ajcn.115.118216","article-title":"Best (but oft-forgotten) practices: the design, analysis, and interpretation of Mendelian randomization studies","volume":"103","author":"PC Haycock","year":"2016","journal-title":"The American Journal of Clinical Nutrition"},{"key":"ref23","unstructured":"GWAS meta analysis of philtrium width. [Internet]. 2018. Available from: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/doi.org\/10.5523\/bris.1kz9y0moa8sgj2lxlk53mdmlbj\" xlink:type=\"simple\">https:\/\/doi.org\/10.5523\/bris.1kz9y0moa8sgj2lxlk53mdmlbj<\/ext-link>."},{"issue":"12","key":"ref24","doi-asserted-by":"crossref","first-page":"2233","DOI":"10.3174\/ajnr.A3415","article-title":"Illustrated review of the embryology and development of the facial region, part 1: early face and lateral nasal cavities","volume":"34","author":"P Som","year":"2013","journal-title":"American Journal of Neuroradiology"},{"issue":"5","key":"ref25","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1002\/dvdy.20646","article-title":"Development of the upper lip: morphogenetic and molecular mechanisms","volume":"235","author":"R Jiang","year":"2006","journal-title":"Developmental Dynamics"},{"issue":"2","key":"ref26","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1111\/j.1601-6343.2007.00386.x","article-title":"Subclinical features in non\u2010syndromic cleft lip with or without cleft palate (CL\/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL\/P*","volume":"10","author":"M Marazita","year":"2007","journal-title":"Orthodontics & Craniofacial Research"},{"issue":"11","key":"ref27","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1002\/ajmg.a.31760","article-title":"Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate","volume":"143","author":"K Neiswanger","year":"2007","journal-title":"American Journal of Medical Genetics Part A"},{"issue":"4","key":"ref28","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1111\/ipd.12072","article-title":"Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non\u2010syndromic cleft lip and palate","volume":"24","author":"A Aspinall","year":"2014","journal-title":"International Journal of Paediatric Dentistry"},{"issue":"4","key":"ref29","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1597\/07-064.1","article-title":"Dental anomalies as part of the cleft spectrum","volume":"45","author":"R Menezes","year":"2008","journal-title":"The Cleft Palate-Craniofacial Journal"},{"issue":"suppl 1","key":"ref30","doi-asserted-by":"crossref","first-page":"R73","DOI":"10.1093\/hmg\/ddh052","article-title":"Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts","volume":"13","author":"P Stanier","year":"2004","journal-title":"Human Molecular Genetics"},{"issue":"4","key":"ref31","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/j.1601-6343.2009.01462.x","article-title":"Face shape of unaffected parents with cleft affected offspring: combining three\u2010dimensional surface imaging and geometric morphometrics","volume":"12","author":"S Weinberg","year":"2009","journal-title":"Orthodontics & Craniofacial Research"},{"issue":"25","key":"ref32","doi-asserted-by":"crossref","first-page":"2631","DOI":"10.1016\/j.jacc.2012.09.017","article-title":"Effect of long-term exposure to lower low-density lipoprotein cholesterol beginning early in life on the risk of coronary heart disease: a Mendelian randomization analysis","volume":"60","author":"BA Ference","year":"2012","journal-title":"Journal of the American College of Cardiology"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"g4164","DOI":"10.1136\/bmj.g4164","article-title":"Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data","volume":"349","author":"MV Holmes","year":"2014","journal-title":"BMJ"},{"issue":"3","key":"ref34","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/S0959-437X(97)80146-3","article-title":"Homeobox genes and disease","volume":"7","author":"E Boncinelli","year":"1997","journal-title":"Current Opinion in Genetics & Development"},{"issue":"1","key":"ref35","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1741-7007-5-47","article-title":"Classification and nomenclature of all human homeobox genes","volume":"5","author":"PW Holland","year":"2007","journal-title":"BMC Biology"},{"issue":"1","key":"ref36","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/s13148-017-0362-2","article-title":"Distinct DNA methylation profiles in subtypes of orofacial cleft","volume":"9","author":"GC Sharp","year":"2017","journal-title":"Clinical Epigenetics"},{"issue":"3","key":"ref37","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s00439-016-1754-7","article-title":"Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate","volume":"136","author":"EJ Leslie","year":"2017","journal-title":"Human Genetics"},{"key":"ref38","unstructured":"International Consortium to Identify Genes and Interactions Controlling Oral Clefts 2010. Available from: <ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.ncbi.nlm.nih.gov\/projects\/gap\/cgi-bin\/study.cgi?study_id=phs000094.v1.p1\" xlink:type=\"simple\">https:\/\/www.ncbi.nlm.nih.gov\/projects\/gap\/cgi-bin\/study.cgi?study_id=phs000094.v1.p1<\/ext-link>."},{"issue":"10","key":"ref39","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1038\/ng1007-1181","article-title":"The NCBI dbGaP database of genotypes and phenotypes","volume":"39","author":"MD Mailman","year":"2007","journal-title":"Nature Genetics"},{"issue":"1","key":"ref40","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1046\/j.1365-3016.2001.00325.x","article-title":"Jones and the ALSPAC Study Team. ALSPAC\u2013the avon longitudinal study of parents and children","volume":"15","author":"P Golding","year":"2001","journal-title":"Paediatric and Perinatal Epidemiology"},{"key":"ref41","first-page":"111","article-title":"Cohort profile: the \u2018children of the 90s\u2019\u2014the index offspring of the Avon Longitudinal Study of Parents and Children","author":"A Boyd","year":"2012","journal-title":"International Journal of Epidemiology"},{"issue":"6","key":"ref42","doi-asserted-by":"crossref","first-page":"e185","DOI":"10.1597\/15-199","article-title":"The 3D Facial Norms Database: Part 1. A web-based craniofacial anthropometric and image repository for the clinical and research community","volume":"53","author":"SM Weinberg","year":"2016","journal-title":"The Cleft Palate-Craniofacial Journal"},{"issue":"3","key":"ref43","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":"The American Journal of Human Genetics"},{"issue":"1","key":"ref44","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1093\/ije\/dys066","article-title":"Cohort profile: the Avon Longitudinal Study of Parents and Children: ALSPAC mothers cohort","volume":"42","author":"A Fraser","year":"2012","journal-title":"International journal of epidemiology"},{"issue":"2","key":"ref45","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/nmeth.1785","article-title":"A linear complexity phasing method for thousands of genomes","volume":"9","author":"O Delaneau","year":"2012","journal-title":"Nature Methods"},{"issue":"7571","key":"ref46","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","year":"2015","journal-title":"Nature"},{"issue":"6","key":"ref47","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 Genetics"},{"issue":"3","key":"ref48","first-page":"506","article-title":"Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)","volume":"52","author":"RS Spielman","year":"1993","journal-title":"The American Journal of Human Genetics"},{"issue":"17","key":"ref49","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1093\/bioinformatics\/btq340","article-title":"METAL: fast and efficient meta-analysis of genomewide association scans","volume":"26","author":"CJ Willer","year":"2010","journal-title":"Bioinformatics"},{"issue":"3","key":"ref50","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1046\/J.1469-1809.2005.00156.x","article-title":"Integrating case\u2010control and TDT studies","volume":"69","author":"G Kazeem","year":"2005","journal-title":"Annals of Human Genetics"},{"key":"ref51","article-title":"Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders","author":"DJ Weiner","year":"2017","journal-title":"Nature Genetics"},{"issue":"2","key":"ref52","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.ajhg.2015.06.005","article-title":"A fast method that uses polygenic scores to estimate the variance explained by genome-wide marker panels and the proportion of variants affecting a trait","volume":"97","author":"L Palla","year":"2015","journal-title":"The American Journal of Human Genetics"},{"issue":"1","key":"ref53","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ajhg.2010.11.011","article-title":"GCTA: a tool for genome-wide complex trait analysis","volume":"88","author":"J Yang","year":"2011","journal-title":"The American Journal of Human Genetics"},{"key":"ref54","first-page":"078972","article-title":"MR-Base: a platform for systematic causal inference across the phenome using billions of genetic associations","author":"G Hemani","year":"2016","journal-title":"bioRxiv"},{"issue":"2","key":"ref55","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1093\/ije\/dyv080","article-title":"Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression","volume":"44","author":"J Bowden","year":"2015","journal-title":"International Journal of Epidemiology"},{"issue":"4","key":"ref56","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/gepi.21965","article-title":"Consistent estimation in Mendelian randomization with some invalid instruments using a weighted median estimator","volume":"40","author":"J Bowden","year":"2016","journal-title":"Genetic Epidemiology"},{"key":"ref57","article-title":"Robust inference in two-sample Mendelian randomisation via the zero modal pleiotropy assumption","volume":"126102","author":"FP Hartwig","year":"2017","journal-title":"bioRxiv"},{"issue":"11","key":"ref58","doi-asserted-by":"crossref","first-page":"e1007081","DOI":"10.1371\/journal.pgen.1007081","article-title":"Orienting the causal relationship between imprecisely measured traits using GWAS summary data","volume":"13","author":"G Hemani","year":"2017","journal-title":"PLoS genetics"},{"issue":"1","key":"ref59","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1038\/s41467-017-01261-5","article-title":"Functional mapping and annotation of genetic associations with FUMA","volume":"8","author":"K Watanabe","year":"2017","journal-title":"Nature Communications"},{"issue":"6","key":"ref60","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The genotype-tissue expression (GTEx) project","volume":"45","author":"J Lonsdale","year":"2013","journal-title":"Nature Genetics"},{"issue":"21","key":"ref61","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1093\/bioinformatics\/btv402","article-title":"LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants","volume":"31","author":"MJ Machiela","year":"2015","journal-title":"Bioinformatics"}],"updated-by":[{"DOI":"10.1371\/journal.pgen.1007501","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T00:00:00Z","timestamp":1534118400000}}],"container-title":["PLOS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1007501","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,28]],"date-time":"2022-08-28T12:23:48Z","timestamp":1661689428000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1007501"}},"subtitle":[],"editor":[{"given":"Heather J.","family":"Cordell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2018,8,1]]},"references-count":61,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2018,8,1]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1007501","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/255901","asserted-by":"object"}]},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,1]]}}}