{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T05:49:35Z","timestamp":1773380975863,"version":"3.50.1"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,10,4]],"date-time":"2018-10-04T00:00:00Z","timestamp":1538611200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2018,10,4]],"date-time":"2018-10-04T00:00:00Z","timestamp":1538611200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000051","name":"U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01-HG009120"],"award-info":[{"award-number":["R01-HG009120"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01-HG006399"],"award-info":[{"award-number":["R01-HG006399"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"U.S. Department of Health & Human Services | NIH | National Cancer Institute","doi-asserted-by":"publisher","award":["U01-CA194393"],"award-info":[{"award-number":["U01-CA194393"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Commun"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Although genome-wide association studies (GWAS) for prostate cancer (PrCa) have identified more than 100 risk regions, most of the risk genes at these regions remain largely unknown. Here we integrate the largest PrCa GWAS (\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u2009142,392) with gene expression measured in 45 tissues (\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u20094458), including normal and tumor prostate, to perform a multi-tissue transcriptome-wide association study (TWAS) for PrCa. We identify 217 genes at 84 independent 1\u2009Mb regions associated with PrCa risk, 9 of which are regions with no genome-wide significant SNP within 2\u2009Mb. 23 genes are significant in TWAS only for alternative splicing models in prostate tumor thus supporting the hypothesis of splicing driving risk for continued oncogenesis. Finally, we use a Bayesian probabilistic approach to estimate credible sets of genes containing the causal gene at a\u00a0pre-defined level; this reduced the list of 217 associations to 109 genes in the 90% credible set. Overall, our findings highlight the power of integrating expression with PrCa GWAS to identify novel risk loci and prioritize putative causal genes at known risk loci.\n                  <\/jats:p>","DOI":"10.1038\/s41467-018-06302-1","type":"journal-article","created":{"date-parts":[[2018,9,28]],"date-time":"2018-09-28T09:33:32Z","timestamp":1538127212000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":146,"title":["Large-scale transcriptome-wide association study identifies new prostate cancer risk regions"],"prefix":"10.1038","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9352-5927","authenticated-orcid":false,"given":"Nicholas","family":"Mancuso","sequence":"first","affiliation":[]},{"given":"Simon","family":"Gayther","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7980-4620","authenticated-orcid":false,"given":"Alexander","family":"Gusev","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1226-070X","authenticated-orcid":false,"given":"Wei","family":"Zheng","sequence":"additional","affiliation":[]},{"given":"Kathryn L.","family":"Penney","sequence":"additional","affiliation":[]},{"given":"Zsofia","family":"Kote-Jarai","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3698-6241","authenticated-orcid":false,"given":"Rosalind","family":"Eeles","sequence":"additional","affiliation":[]},{"given":"Matthew","family":"Freedman","sequence":"additional","affiliation":[]},{"given":"Christopher","family":"Haiman","sequence":"additional","affiliation":[]},{"given":"Bogdan","family":"Pasaniuc","sequence":"additional","affiliation":[]},{"name":"The PRACTICAL consortium","sequence":"additional","affiliation":[]},{"given":"Brian E.","family":"Henderson","sequence":"additional","affiliation":[]},{"given":"Sara","family":"Benlloch","sequence":"additional","affiliation":[]},{"given":"Fredrick R.","family":"Schumacher","sequence":"additional","affiliation":[]},{"given":"Ali Amin Al","family":"Olama","sequence":"additional","affiliation":[]},{"given":"Kenneth","family":"Muir","sequence":"additional","affiliation":[]},{"given":"Sonja I.","family":"Berndt","sequence":"additional","affiliation":[]},{"given":"David V.","family":"Conti","sequence":"additional","affiliation":[]},{"given":"Fredrik","family":"Wiklund","sequence":"additional","affiliation":[]},{"given":"Stephen","family":"Chanock","sequence":"additional","affiliation":[]},{"given":"Victoria L.","family":"Stevens","sequence":"additional","affiliation":[]},{"given":"Catherine M.","family":"Tangen","sequence":"additional","affiliation":[]},{"given":"Jyotsna","family":"Batra","sequence":"additional","affiliation":[]},{"given":"Judith","family":"Clements","sequence":"additional","affiliation":[]},{"given":"Henrik","family":"Gronberg","sequence":"additional","affiliation":[]},{"given":"Nora","family":"Pashayan","sequence":"additional","affiliation":[]},{"given":"Johanna","family":"Schleutker","sequence":"additional","affiliation":[]},{"given":"Demetrius","family":"Albanes","sequence":"additional","affiliation":[]},{"given":"Stephanie","family":"Weinstein","sequence":"additional","affiliation":[]},{"given":"Alicja","family":"Wolk","sequence":"additional","affiliation":[]},{"given":"Catharine","family":"West","sequence":"additional","affiliation":[]},{"given":"Lorelei","family":"Mucci","sequence":"additional","affiliation":[]},{"given":"G\u00e9raldine","family":"Cancel-Tassin","sequence":"additional","affiliation":[]},{"given":"Stella","family":"Koutros","sequence":"additional","affiliation":[]},{"given":"Karina Dalsgaard","family":"Sorensen","sequence":"additional","affiliation":[]},{"given":"Lovise","family":"Maehle","sequence":"additional","affiliation":[]},{"given":"David E.","family":"Neal","sequence":"additional","affiliation":[]},{"given":"Freddie C.","family":"Hamdy","sequence":"additional","affiliation":[]},{"given":"Jenny L.","family":"Donovan","sequence":"additional","affiliation":[]},{"given":"Ruth C.","family":"Travis","sequence":"additional","affiliation":[]},{"given":"Robert J.","family":"Hamilton","sequence":"additional","affiliation":[]},{"given":"Sue Ann","family":"Ingles","sequence":"additional","affiliation":[]},{"given":"Barry","family":"Rosenstein","sequence":"additional","affiliation":[]},{"given":"Yong-Jie","family":"Lu","sequence":"additional","affiliation":[]},{"given":"Graham G.","family":"Giles","sequence":"additional","affiliation":[]},{"given":"Adam S.","family":"Kibel","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Vega","sequence":"additional","affiliation":[]},{"given":"Manolis","family":"Kogevinas","sequence":"additional","affiliation":[]},{"given":"Jong Y.","family":"Park","sequence":"additional","affiliation":[]},{"given":"Janet L.","family":"Stanford","sequence":"additional","affiliation":[]},{"given":"Cezary","family":"Cybulski","sequence":"additional","affiliation":[]},{"given":"B\u00f8rge G.","family":"Nordestgaard","sequence":"additional","affiliation":[]},{"given":"Hermann","family":"Brenner","sequence":"additional","affiliation":[]},{"given":"Christiane","family":"Maier","sequence":"additional","affiliation":[]},{"given":"Jeri","family":"Kim","sequence":"additional","affiliation":[]},{"given":"Esther M.","family":"John","sequence":"additional","affiliation":[]},{"given":"Manuel R.","family":"Teixeira","sequence":"additional","affiliation":[]},{"given":"Susan L.","family":"Neuhausen","sequence":"additional","affiliation":[]},{"given":"Kim","family":"De Ruyck","sequence":"additional","affiliation":[]},{"given":"Azad","family":"Razack","sequence":"additional","affiliation":[]},{"given":"Lisa F.","family":"Newcomb","sequence":"additional","affiliation":[]},{"given":"Davor","family":"Lessel","sequence":"additional","affiliation":[]},{"given":"Radka","family":"Kaneva","sequence":"additional","affiliation":[]},{"given":"Nawaid","family":"Usmani","sequence":"additional","affiliation":[]},{"given":"Frank","family":"Claessens","sequence":"additional","affiliation":[]},{"given":"Paul A.","family":"Townsend","sequence":"additional","affiliation":[]},{"given":"Manuela","family":"Gago-Dominguez","sequence":"additional","affiliation":[]},{"given":"Monique J.","family":"Roobol","sequence":"additional","affiliation":[]},{"given":"Florence","family":"Menegaux","sequence":"additional","affiliation":[]},{"given":"Kay-Tee","family":"Khaw","sequence":"additional","affiliation":[]},{"given":"Lisa","family":"Cannon-Albright","sequence":"additional","affiliation":[]},{"given":"Hardev","family":"Pandha","sequence":"additional","affiliation":[]},{"given":"Stephen N.","family":"Thibodeau","sequence":"additional","affiliation":[]},{"given":"David J.","family":"Hunter","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Kraft","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2018,10,4]]},"reference":[{"key":"6302_CR1","doi-asserted-by":"publisher","first-page":"2303","DOI":"10.1158\/1055-9965.EPI-13-0568","volume":"23","author":"JB Hjelmborg","year":"2014","unstructured":"Hjelmborg, J. B. et al. The heritability of prostate cancer in the nordic twin study of cancer. Cancer Epidemiol. Biomark. 23, 2303 (2014).","journal-title":"Cancer Epidemiol. Biomark."},{"key":"6302_CR2","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1001\/jama.2015.17703","volume":"315","author":"LA Mucci","year":"2016","unstructured":"Mucci, L. A. et al. Familial risk and heritability of cancer among twins in nordic countries. JAMA 315, 68\u201376 (2016).","journal-title":"JAMA"},{"key":"6302_CR3","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1038\/ng.2560","volume":"45","author":"RA Eeles","year":"2013","unstructured":"Eeles, R. A. et al. Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat. Genet. 45, 385\u2013391 (2013).","journal-title":"Nat. Genet."},{"key":"6302_CR4","doi-asserted-by":"publisher","first-page":"5589","DOI":"10.1093\/hmg\/ddv203","volume":"24","author":"Amin Al Olama","year":"2015","unstructured":"Amin Al Olama et al. Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans. Human Mol. Genet. 24, 5589\u20135602 (2015).","journal-title":"Human Mol. Genet."},{"key":"6302_CR5","doi-asserted-by":"publisher","first-page":"1103","DOI":"10.1038\/ng.3094","volume":"46","author":"AA Al Olama","year":"2014","unstructured":"Al Olama, A. A. et al. A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. Nat. Genet. 46, 1103\u20131109 (2014).","journal-title":"Nat. Genet."},{"key":"6302_CR6","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1038\/ng.452","volume":"41","author":"AA Al Olama","year":"2009","unstructured":"Al Olama, A. A. et al. Multiple loci on 8q24 associated with prostate cancer susceptibility. Nat. Genet. 41, 1058\u20131060 (2009).","journal-title":"Nat. Genet."},{"key":"6302_CR7","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1038\/ng.90","volume":"40","author":"RA Eeles","year":"2008","unstructured":"Eeles, R. A. et al. Multiple newly identified loci associated with prostate cancer susceptibility. Nat. Genet. 40, 316\u2013321 (2008).","journal-title":"Nat. Genet."},{"key":"6302_CR8","doi-asserted-by":"publisher","first-page":"1357","DOI":"10.1038\/nm.3975","volume":"21","author":"S Spisak","year":"2015","unstructured":"Spisak, S. et al. CAUSEL: an epigenome- and genome-editing pipeline for establishing function of noncoding GWAS variants. Nat. Med. 21, 1357\u20131363 (2015).","journal-title":"Nat. Med."},{"key":"6302_CR9","doi-asserted-by":"publisher","first-page":"e1000888","DOI":"10.1371\/journal.pgen.1000888","volume":"6","author":"DL Nicolae","year":"2010","unstructured":"Nicolae, D. L. et al. Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet. 6, e1000888 (2010).","journal-title":"PLoS Genet."},{"key":"6302_CR10","doi-asserted-by":"publisher","first-page":"1190","DOI":"10.1126\/science.1222794","volume":"337","author":"MT Maurano","year":"2012","unstructured":"Maurano, M. T. et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337, 1190\u20131195 (2012).","journal-title":"Science"},{"key":"6302_CR11","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1038\/nature14248","volume":"518","author":"C Roadmap Epigenomics","year":"2015","unstructured":"Roadmap Epigenomics, C. et al. Integrative analysis of 111 reference human epigenomes. Nature 518, 317\u2013330 (2015).","journal-title":"Nature"},{"key":"6302_CR12","doi-asserted-by":"publisher","first-page":"e1004102","DOI":"10.1371\/journal.pgen.1004102","volume":"10","author":"DJ Hazelett","year":"2014","unstructured":"Hazelett, D. J. et al. Comprehensive functional annotation of 77 prostate cancer risk loci. PLoS Genet. 10, e1004102 (2014).","journal-title":"PLoS Genet."},{"key":"6302_CR13","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10979","volume":"7","author":"A Gusev","year":"2016","unstructured":"Gusev, A. et al. Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation. Nat. Commun. 7, 10979 (2016).","journal-title":"Nat. Commun."},{"key":"6302_CR14","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9653","volume":"6","author":"SN Thibodeau","year":"2015","unstructured":"Thibodeau, S. N. et al. Identification of candidate genes for prostate cancer-risk SNPs utilizing a normal prostate tissue eQTL data set. Nat. Commun. 6, 8653 (2015).","journal-title":"Nat. Commun."},{"key":"6302_CR15","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/ng.3523","volume":"48","author":"T Whitington","year":"2016","unstructured":"Whitington, T. et al. Gene regulatory mechanisms underpinning prostate cancer susceptibility. Nat. Genet. 48, 387\u2013397 (2016).","journal-title":"Nat. Genet."},{"key":"6302_CR16","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1158\/1055-9965.EPI-14-0694-T","volume":"24","author":"KL Penney","year":"2015","unstructured":"Penney, K. L. et al. Association of prostate cancer risk variants with gene expression in normal and tumor tissue. Cancer Epidemiol. Biomark. 24, 255 (2015).","journal-title":"Cancer Epidemiol. Biomark."},{"key":"6302_CR17","doi-asserted-by":"publisher","first-page":"5294","DOI":"10.1093\/hmg\/ddu228","volume":"23","author":"Q Li","year":"2014","unstructured":"Li, Q. et al. Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types. Human Mol. Genet. 23, 5294\u20135302 (2014).","journal-title":"Human Mol. Genet."},{"key":"6302_CR18","doi-asserted-by":"publisher","first-page":"11252","DOI":"10.1073\/pnas.1200853109","volume":"109","author":"C Grisanzio","year":"2012","unstructured":"Grisanzio, C. et al. Genetic and functional analyses implicate the NUDT11, HNF1B, and SLC22A3 genes in prostate cancer pathogenesis. Proc. Natl Acad. Sci. USA 109, 11252\u201311257 (2012).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"6302_CR19","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/ejhg.2013.195","volume":"22","author":"X Xu","year":"2014","unstructured":"Xu, X. et al. Variants at IRX4 as prostate cancer expression quantitative trait loci. Eur. J. Hum. Genet. 22, 558\u2013563 (2014).","journal-title":"Eur. J. Hum. Genet."},{"key":"6302_CR20","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1038\/ng.2862","volume":"46","author":"Q Huang","year":"2014","unstructured":"Huang, Q. et al. A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding. Nat. Genet. 46, 126\u2013135 (2014).","journal-title":"Nat. Genet."},{"key":"6302_CR21","doi-asserted-by":"publisher","first-page":"e1001204","DOI":"10.1371\/journal.pgen.1001204","volume":"6","author":"MM Pomerantz","year":"2010","unstructured":"Pomerantz, M. M. et al. Analysis of the 10q11 cancer risk locus implicates MSMB and NCOA4 in human prostate tumorigenesis. PLoS Genet. 6, e1001204 (2010).","journal-title":"PLoS Genet."},{"key":"6302_CR22","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/ng.2653","volume":"45","author":"J Lonsdale","year":"2013","unstructured":"Lonsdale, J. et al. The genotype-tissue expression (GTEx) project. Nat. Genet. 45, 580\u2013585 (2013).","journal-title":"Nat. Genet."},{"key":"6302_CR23","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1038\/ng.3795","volume":"49","author":"S Chun","year":"2017","unstructured":"Chun, S. et al. Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types. Nat. Genet. 49, 600 (2017).","journal-title":"Nat. Genet."},{"key":"6302_CR24","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1038\/ng.3367","volume":"47","author":"ER Gamazon","year":"2015","unstructured":"Gamazon, E. R. et al. A gene-based association method for mapping traits using reference transcriptome data. Nat. Genet. 47, 1091\u20131098 (2015).","journal-title":"Nat. Genet."},{"key":"6302_CR25","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/ng.3506","volume":"48","author":"A Gusev","year":"2016","unstructured":"Gusev, A. et al. Integrative approaches for large-scale transcriptome-wide association studies. Nat. Genet. 48, 245\u201352 (2016).","journal-title":"Nat. Genet."},{"key":"6302_CR26","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1038\/ng.3538","volume":"48","author":"Z Zhu","year":"2016","unstructured":"Zhu, Z. et al. Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nat. Genet. 48, 481 (2016).","journal-title":"Nat. Genet."},{"key":"6302_CR27","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1016\/j.ajhg.2017.01.031","volume":"100","author":"N Mancuso","year":"2017","unstructured":"Mancuso, N. et al. Integrating gene expression with summary association statistics to identify genes associated with 30 complex traits. Am. J. Human Genet. 100, 473\u2013487 (2017).","journal-title":"Am. J. Human Genet."},{"key":"6302_CR28","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13073-016-0338-4","volume":"8","author":"JMW Pavlides","year":"2016","unstructured":"Pavlides, J. M. W. et al. Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits. Genome Med. 8, 1\u20136 (2016).","journal-title":"Genome Med."},{"key":"6302_CR29","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1038\/s41588-018-0142-8","volume":"50","author":"FR Schumacher","year":"2017","unstructured":"Schumacher, F. R. et al. Prostate cancer meta-analysis of more than 140,000 men identifies 63 novel prostate cancer susceptibility loci. Nat. Genet. 50, 928\u2013936 (2017).","journal-title":"Nat. Genet."},{"key":"6302_CR30","doi-asserted-by":"publisher","first-page":"1442","DOI":"10.1038\/nn.4399","volume":"19","author":"M Fromer","year":"2016","unstructured":"Fromer, M. et al. Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nat. Neurosci. 19, 1442\u20131453 (2016).","journal-title":"Nat. Neurosci."},{"key":"6302_CR31","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1093\/ije\/dym225","volume":"37","author":"OT Raitakari","year":"2008","unstructured":"Raitakari, O. T. et al. Cohort profile: the cardiovascular risk in young finns study. Int. J. Epidemiol. 37, 1220\u20131226 (2008).","journal-title":"Int. J. Epidemiol."},{"key":"6302_CR32","doi-asserted-by":"publisher","first-page":"1895","DOI":"10.2337\/db11-1378","volume":"61","author":"A Stan\u010d\u00e1kov\u00e1","year":"2012","unstructured":"Stan\u010d\u00e1kov\u00e1, A. et al. Hyperglycemia and a common variant of GCKR are associated with the levels of eight amino acids in 9,369 finnish men. Diabetes 61, 1895\u20131902 (2012).","journal-title":"Diabetes"},{"key":"6302_CR33","doi-asserted-by":"publisher","first-page":"1212","DOI":"10.2337\/db08-1607","volume":"58","author":"A Stan\u010d\u00e1kov\u00e1","year":"2009","unstructured":"Stan\u010d\u00e1kov\u00e1, A. et al. Changes in insulin sensitivity and insulin release in relation to glycemia and glucose tolerance in 6,414 finnish men. Diabetes 58, 1212\u20131221 (2009).","journal-title":"Diabetes"},{"key":"6302_CR34","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1177\/1403494814541597","volume":"42","author":"J Nuotio","year":"2014","unstructured":"Nuotio, J. et al. Cardiovascular risk factors in 2011 and secular trends since 2007: the Cardiovascular Risk in Young Finns Study. Scand. J. Public Health 42, 563\u2013571 (2014).","journal-title":"Scand. J. Public Health"},{"key":"6302_CR35","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1038\/ng.2951","volume":"46","author":"FA Wright","year":"2014","unstructured":"Wright, F. A. et al. Heritability and genomics of gene expression in peripheral blood. Nat. Genet. 46, 430\u2013437 (2014).","journal-title":"Nat. Genet."},{"key":"6302_CR36","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1038\/ng.2764","volume":"45","author":"The Cancer Genome Atlas Research Network","year":"2013","unstructured":"The Cancer Genome Atlas Research Network et al. The cancer genome atlas pan-cancer analysis project. Nat. Genet. 45, 1113\u20131120 (2013).","journal-title":"Nat. Genet."},{"key":"6302_CR37","doi-asserted-by":"publisher","first-page":"e1003608","DOI":"10.1371\/journal.pgen.1003608","volume":"9","author":"G de los Campos","year":"2013","unstructured":"de los Campos, G., Vazquez, A. I., Fernando, R., Klimentidis, Y. C. & Sorensen, D. Prediction of complex human traits using the genomic best linear unbiased predictor. PLoS Genet. 9, e1003608 (2013).","journal-title":"PLoS Genet."},{"key":"6302_CR38","doi-asserted-by":"publisher","first-page":"e1003264","DOI":"10.1371\/journal.pgen.1003264","volume":"9","author":"X Zhou","year":"2013","unstructured":"Zhou, X., Carbonetto, P. & Stephens, M. Polygenic modeling with bayesian sparse linear mixed models. PLoS Genet. 9, e1003264 (2013).","journal-title":"PLoS Genet."},{"key":"6302_CR39","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1016\/j.cell.2015.10.025","volume":"163","author":"A Abeshouse","year":"2015","unstructured":"Abeshouse, A. et al. The molecular taxonomy of primary prostate cancer. Cell 163, 1011\u20131025 (2015).","journal-title":"Cell"},{"key":"6302_CR40","doi-asserted-by":"publisher","first-page":"10238","DOI":"10.1073\/pnas.181336698","volume":"98","author":"LE Matesic","year":"2001","unstructured":"Matesic, L. E. et al. Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc. Natl Acad. Sci. USA 98, 10238\u201310243 (2001).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"6302_CR41","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1126\/science.aad9417","volume":"352","author":"YI Li","year":"2016","unstructured":"Li, Y. I. et al. RNA splicing is a primary link between genetic variation and disease. Science 352, 600 (2016).","journal-title":"Science"},{"key":"6302_CR42","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/j.ccr.2011.10.014","volume":"20","author":"C Darido","year":"2011","unstructured":"Darido, C. et al. Targeting of the tumor suppressor GRHL3 by a miR-21-dependent proto-oncogenic network results in PTEN loss and tumorigenesis. Cancer Cell 20, 635\u2013648 (2011).","journal-title":"Cancer Cell"},{"key":"6302_CR43","doi-asserted-by":"publisher","first-page":"5597","DOI":"10.1158\/0008-5472.CAN-04-0603","volume":"64","author":"J Yang","year":"2004","unstructured":"Yang, J. et al. Altered DNA polymerase iota expression in breast cancer cells leads to a reduction in DNA replication fidelity and a higher rate of mutagenesis. Cancer Res. 64, 5597\u2013607 (2004).","journal-title":"Cancer Res."},{"key":"6302_CR44","doi-asserted-by":"publisher","first-page":"e69317","DOI":"10.1371\/journal.pone.0069317","volume":"8","author":"F Yuan","year":"2013","unstructured":"Yuan, F. et al. Overexpressed DNA polymerase iota regulated by JNK\/c-Jun contributes to hypermutagenesis in bladder cancer. PLoS ONE 8, e69317 (2013).","journal-title":"PLoS ONE"},{"key":"6302_CR45","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1002\/humu.22909","volume":"37","author":"H Bu","year":"2016","unstructured":"Bu, H. et al. Putative prostate cancer risk SNP in an androgen receptor-binding site of the melanophilin gene illustrates enrichment of risk SNPs in androgen receptor target sites. Human Mutat. 37, 52\u201364 (2016).","journal-title":"Human Mutat."},{"key":"6302_CR46","doi-asserted-by":"publisher","first-page":"e1004958","DOI":"10.1371\/journal.pgen.1004958","volume":"11","author":"M Gutierrez-Arcelus","year":"2015","unstructured":"Gutierrez-Arcelus, M. et al. Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing. PLoS Genet. 11, e1004958 (2015).","journal-title":"PLoS Genet."},{"key":"6302_CR47","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1006\/geno.1998.5639","volume":"55","author":"S Verhaagh","year":"1999","unstructured":"Verhaagh, S., Schweifer, N., Barlow, D. P. & Zwart, R. Cloning of the mouse and human solute carrier 22a3 (Slc22a3\/SLC22A3) identifies a conserved cluster of three organic cation transporters on mouse chromosome 17 and human 6q26\u2013q27. Genomics 55, 209\u2013218 (1999).","journal-title":"Genomics"},{"key":"6302_CR48","doi-asserted-by":"publisher","first-page":"7","DOI":"10.3322\/caac.21332","volume":"66","author":"RL Siegel","year":"2016","unstructured":"Siegel, R. L., Miller, K. D. & Jemal, A. Cancer statistics, 2016. Cancer J. Clin. 66, 7\u201330 (2016).","journal-title":"Cancer J. Clin."},{"key":"6302_CR49","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1002\/pros.22778","volume":"74","author":"S Sutcliffe","year":"2014","unstructured":"Sutcliffe, S., De Marzo, A. M., Sfanos, K. S. & Laurence, M. MSMB variation and prostate cancer risk: clues towards a possible fungal etiology. Prostate 74, 569\u2013578 (2014).","journal-title":"Prostate"},{"key":"6302_CR50","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1038\/s41588-018-0092-1","volume":"50","author":"A Gusev","year":"2018","unstructured":"Gusev, A. et al. Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. Nat. Genet. 50, 538\u2013548 (2018).","journal-title":"Nat. Genet."},{"key":"6302_CR51","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1038\/ng.3643","volume":"48","author":"S McCarthy","year":"2016","unstructured":"McCarthy, S. et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat. Genet. 48, 1279\u20131283 (2016).","journal-title":"Nat. Genet."},{"key":"6302_CR52","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1038\/nature09298","volume":"467","author":"Consortium, T.I.H.","year":"2010","unstructured":"Consortium, T.I.H. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52\u201358 (2010).","journal-title":"Nature"},{"key":"6302_CR53","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"The Genomes Project, C.","year":"2015","unstructured":"The Genomes Project, C. A global reference for human genetic variation. Nature 526, 68\u201374 (2015).","journal-title":"Nature"},{"key":"6302_CR54","doi-asserted-by":"publisher","first-page":"i206","DOI":"10.1093\/bioinformatics\/btv240","volume":"31","author":"F Hormozdiari","year":"2015","unstructured":"Hormozdiari, F., Kichaev, G., Yang, W.-Y., Pasaniuc, B. & Eskin, E. Identification of causal genes for complex traits. Bioinformatics 31, i206\u2013i213 (2015).","journal-title":"Bioinformatics"},{"key":"6302_CR55","doi-asserted-by":"publisher","first-page":"1294","DOI":"10.1038\/ng.2435","volume":"44","author":"JB Maller","year":"2012","unstructured":"Maller, J. B. et al. Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat. Genet. 44, 1294\u20131301 (2012).","journal-title":"Nat. Genet."},{"key":"6302_CR56","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1534\/genetics.115.176107","volume":"200","author":"W Chen","year":"2015","unstructured":"Chen, W. et al. Fine mapping causal variants with an approximate bayesian method using marginal test statistics. Genetics 200, 719 (2015).","journal-title":"Genetics"},{"key":"6302_CR57","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2010-11-2-r14","volume":"11","author":"MD Young","year":"2010","unstructured":"Young, M. D., Wakefield, M. J., Smyth, G. K. & Oshlack, A. Gene ontology analysis for RNA-seq: accounting for selection bias. Genome Biol. 11, R14 (2010).","journal-title":"Genome Biol."}],"updated-by":[{"DOI":"10.1038\/s41467-018-08108-7","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T00:00:00Z","timestamp":1546905600000}}],"container-title":["Nature Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41467-018-06302-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41467-018-06302-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41467-018-06302-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T13:40:58Z","timestamp":1671543658000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41467-018-06302-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10,4]]},"references-count":57,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2018,12]]}},"alternative-id":["6302"],"URL":"https:\/\/doi.org\/10.1038\/s41467-018-06302-1","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/345736","asserted-by":"object"}]},"ISSN":["2041-1723"],"issn-type":[{"value":"2041-1723","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10,4]]},"assertion":[{"value":"11 June 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 August 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 October 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 January 2019","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The original version of this Article contained an error in the spelling of a member of the PRACTICAL Consortium, Manuela Gago-Dominguez, which was incorrectly given as Manuela Gago Dominguez. This has now been corrected in both the PDF and HTML versions of the Article.\u00a0Furthermore,\u00a0In the original HTML version of this Article, the order of authors within the author list was incorrect. The\u00a0consortium\u00a0PRACTICAL consortium was incorrectly listed after Bogdan Pasaniuc and should have been listed after Kathryn L. Penney. This error has been corrected in the HTML version of the Article; the PDF version was correct at the time of publication.","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"4079"}}