Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative

Health systems are stewards of patient electronic health record (EHR) data with extraordinarily rich depth and breadth, reflecting thousands of diagnoses and exposures. Measures of genomic variation integrated with EHRs offer a potential strategy to accurately stratify patients for risk profiling an...

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Published in	American journal of human genetics Vol. 102; no. 6; pp. 1048 - 1061
Main Authors	Fritsche, Lars G., Gruber, Stephen B., Wu, Zhenke, Schmidt, Ellen M., Zawistowski, Matthew, Moser, Stephanie E., Blanc, Victoria M., Brummett, Chad M., Kheterpal, Sachin, Abecasis, Gonçalo R., Mukherjee, Bhramar
Format	Journal Article
Language	English
Published	United States Elsevier Inc 07.06.2018 Elsevier
Subjects	Calibration electronic health records Female Genetic Association Studies genetic variation Genome-Wide Association Study Genomics hospitals Humans Male Middle Aged multifactorial inheritance Multifactorial Inheritance - genetics neoplasms Neoplasms - diagnosis Neoplasms - genetics Neoplasms - pathology phenome-wide association study Phenotype Polymorphism, Single Nucleotide - genetics Quantitative Trait, Heritable Reproducibility of Results risk Risk Factors Time Factors phenotype hospitals genome-wide association study genetic variation risk electronic health records phenome-wide association study neoplasms humans multifactorial inheritance
Online Access	Get full text
ISSN	0002-9297 1537-6605 1537-6605
DOI	10.1016/j.ajhg.2018.04.001

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Abstract	Health systems are stewards of patient electronic health record (EHR) data with extraordinarily rich depth and breadth, reflecting thousands of diagnoses and exposures. Measures of genomic variation integrated with EHRs offer a potential strategy to accurately stratify patients for risk profiling and discover new relationships between diagnoses and genomes. The objective of this study was to evaluate whether polygenic risk scores (PRS) for common cancers are associated with multiple phenotypes in a phenome-wide association study (PheWAS) conducted in 28,260 unrelated, genotyped patients of recent European ancestry who consented to participate in the Michigan Genomics Initiative, a longitudinal biorepository effort within Michigan Medicine. PRS for 12 cancer traits were calculated using summary statistics from the NHGRI-EBI catalog. A total of 1,711 synthetic case-control studies was used for PheWAS analyses. There were 13,490 (47.7%) patients with at least one cancer diagnosis in this study sample. PRS exhibited strong association for several cancer traits they were designed for, including female breast cancer, prostate cancer, melanoma, basal cell carcinoma, squamous cell carcinoma, and thyroid cancer. Phenome-wide significant associations were observed between PRS and many non-cancer diagnoses. To differentiate PRS associations driven by the primary trait from associations arising through shared genetic risk profiles, the idea of “exclusion PRS PheWAS” was introduced. Further analysis of temporal order of the diagnoses improved our understanding of these secondary associations. This comprehensive PheWAS used PRS instead of a single variant.
AbstractList	Health systems are stewards of patient electronic health record (EHR) data with extraordinarily rich depth and breadth, reflecting thousands of diagnoses and exposures. Measures of genomic variation integrated with EHRs offer a potential strategy to accurately stratify patients for risk profiling and discover new relationships between diagnoses and genomes. The objective of this study was to evaluate whether polygenic risk scores (PRS) for common cancers are associated with multiple phenotypes in a phenome-wide association study (PheWAS) conducted in 28,260 unrelated, genotyped patients of recent European ancestry who consented to participate in the Michigan Genomics Initiative, a longitudinal biorepository effort within Michigan Medicine. PRS for 12 cancer traits were calculated using summary statistics from the NHGRI-EBI catalog. A total of 1,711 synthetic case-control studies was used for PheWAS analyses. There were 13,490 (47.7%) patients with at least one cancer diagnosis in this study sample. PRS exhibited strong association for several cancer traits they were designed for, including female breast cancer, prostate cancer, melanoma, basal cell carcinoma, squamous cell carcinoma, and thyroid cancer. Phenome-wide significant associations were observed between PRS and many non-cancer diagnoses. To differentiate PRS associations driven by the primary trait from associations arising through shared genetic risk profiles, the idea of “exclusion PRS PheWAS” was introduced. Further analysis of temporal order of the diagnoses improved our understanding of these secondary associations. This comprehensive PheWAS used PRS instead of a single variant. Health systems are stewards of patient electronic health record (EHR) data with extraordinarily rich depth and breadth, reflecting thousands of diagnoses and exposures. Measures of genomic variation integrated with EHRs offer a potential strategy to accurately stratify patients for risk profiling and discover new relationships between diagnoses and genomes. The objective of this study was to evaluate whether polygenic risk scores (PRS) for common cancers are associated with multiple phenotypes in a phenome-wide association study (PheWAS) conducted in 28,260 unrelated, genotyped patients of recent European ancestry who consented to participate in the Michigan Genomics Initiative, a longitudinal biorepository effort within Michigan Medicine. PRS for 12 cancer traits were calculated using summary statistics from the NHGRI-EBI catalog. A total of 1,711 synthetic case-control studies was used for PheWAS analyses. There were 13,490 (47.7%) patients with at least one cancer diagnosis in this study sample. PRS exhibited strong association for several cancer traits they were designed for, including female breast cancer, prostate cancer, melanoma, basal cell carcinoma, squamous cell carcinoma, and thyroid cancer. Phenome-wide significant associations were observed between PRS and many non-cancer diagnoses. To differentiate PRS associations driven by the primary trait from associations arising through shared genetic risk profiles, the idea of "exclusion PRS PheWAS" was introduced. Further analysis of temporal order of the diagnoses improved our understanding of these secondary associations. This comprehensive PheWAS used PRS instead of a single variant.Health systems are stewards of patient electronic health record (EHR) data with extraordinarily rich depth and breadth, reflecting thousands of diagnoses and exposures. Measures of genomic variation integrated with EHRs offer a potential strategy to accurately stratify patients for risk profiling and discover new relationships between diagnoses and genomes. The objective of this study was to evaluate whether polygenic risk scores (PRS) for common cancers are associated with multiple phenotypes in a phenome-wide association study (PheWAS) conducted in 28,260 unrelated, genotyped patients of recent European ancestry who consented to participate in the Michigan Genomics Initiative, a longitudinal biorepository effort within Michigan Medicine. PRS for 12 cancer traits were calculated using summary statistics from the NHGRI-EBI catalog. A total of 1,711 synthetic case-control studies was used for PheWAS analyses. There were 13,490 (47.7%) patients with at least one cancer diagnosis in this study sample. PRS exhibited strong association for several cancer traits they were designed for, including female breast cancer, prostate cancer, melanoma, basal cell carcinoma, squamous cell carcinoma, and thyroid cancer. Phenome-wide significant associations were observed between PRS and many non-cancer diagnoses. To differentiate PRS associations driven by the primary trait from associations arising through shared genetic risk profiles, the idea of "exclusion PRS PheWAS" was introduced. Further analysis of temporal order of the diagnoses improved our understanding of these secondary associations. This comprehensive PheWAS used PRS instead of a single variant.
Author	Moser, Stephanie E. Brummett, Chad M. Fritsche, Lars G. Zawistowski, Matthew Schmidt, Ellen M. Blanc, Victoria M. Abecasis, Gonçalo R. Wu, Zhenke Mukherjee, Bhramar Gruber, Stephen B. Kheterpal, Sachin
AuthorAffiliation	6 Division of Pain Medicine, Department of Anesthesiology, University of Michigan Medical School, Ann Arbor, MI 48109, USA 10 University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA 8 Institute for Healthcare Policy and Innovation, University of Michigan, Ann Arbor, MI 48109, USA 1 Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA 3 K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, 7491 Trondheim, Sør-Trøndelag, Norway 4 USC Norris Comprehensive Cancer Center, Los Angeles, CA 90033, USA 9 Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA 2 Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA 7 Central Biorepository, University of Michigan Medical School, Ann Arbor, MI 48109, USA 5 Michigan Institute for Data Scienc
AuthorAffiliation_xml	– name: 7 Central Biorepository, University of Michigan Medical School, Ann Arbor, MI 48109, USA – name: 10 University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109, USA – name: 2 Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA – name: 8 Institute for Healthcare Policy and Innovation, University of Michigan, Ann Arbor, MI 48109, USA – name: 4 USC Norris Comprehensive Cancer Center, Los Angeles, CA 90033, USA – name: 1 Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA – name: 9 Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA – name: 5 Michigan Institute for Data Science, University of Michigan, Ann Arbor, MI 48109, USA – name: 6 Division of Pain Medicine, Department of Anesthesiology, University of Michigan Medical School, Ann Arbor, MI 48109, USA – name: 3 K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, 7491 Trondheim, Sør-Trøndelag, Norway
Author_xml	– sequence: 1 givenname: Lars G. surname: Fritsche fullname: Fritsche, Lars G. organization: Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA – sequence: 2 givenname: Stephen B. surname: Gruber fullname: Gruber, Stephen B. organization: USC Norris Comprehensive Cancer Center, Los Angeles, CA 90033, USA – sequence: 3 givenname: Zhenke surname: Wu fullname: Wu, Zhenke organization: Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA – sequence: 4 givenname: Ellen M. surname: Schmidt fullname: Schmidt, Ellen M. organization: Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA – sequence: 5 givenname: Matthew surname: Zawistowski fullname: Zawistowski, Matthew organization: Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA – sequence: 6 givenname: Stephanie E. surname: Moser fullname: Moser, Stephanie E. organization: Division of Pain Medicine, Department of Anesthesiology, University of Michigan Medical School, Ann Arbor, MI 48109, USA – sequence: 7 givenname: Victoria M. surname: Blanc fullname: Blanc, Victoria M. organization: Central Biorepository, University of Michigan Medical School, Ann Arbor, MI 48109, USA – sequence: 8 givenname: Chad M. surname: Brummett fullname: Brummett, Chad M. organization: Division of Pain Medicine, Department of Anesthesiology, University of Michigan Medical School, Ann Arbor, MI 48109, USA – sequence: 9 givenname: Sachin surname: Kheterpal fullname: Kheterpal, Sachin organization: Division of Pain Medicine, Department of Anesthesiology, University of Michigan Medical School, Ann Arbor, MI 48109, USA – sequence: 10 givenname: Gonçalo R. surname: Abecasis fullname: Abecasis, Gonçalo R. organization: Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA – sequence: 11 givenname: Bhramar surname: Mukherjee fullname: Mukherjee, Bhramar email: bhramar@umich.edu organization: Department of Biostatistics, University of Michigan School of Public Health, Ann Arbor, MI 48109, USA
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Cites_doi	10.1126/science.1153717 10.1038/ng.411 10.1093/bioinformatics/btq126 10.1186/s13742-015-0047-8 10.1002/pros.23037 10.1038/nrg.2016.27 10.1016/j.cell.2011.09.011 10.1038/ng.1046 10.1053/j.gastro.2015.02.010 10.1038/gim.2016.101 10.1093/nar/gkt1229 10.1038/ng.586 10.1093/bioinformatics/btu197 10.1016/j.ajhg.2012.09.004 10.1038/ng2075 10.1038/ng.163 10.1038/ng.339 10.4338/ACI-2016-04-RA-0060 10.1093/bioinformatics/btq559 10.1016/j.ajhg.2017.05.014 10.1158/0008-5472.CAN-12-2388 10.1371/journal.pmed.1001779 10.1186/s12920-016-0191-8 10.1038/ng.3643 10.1002/gepi.21742 10.1001/jamaoncol.2016.1025 10.1111/bjd.12420 10.1038/nbt.2749 10.1038/nature15393 10.1093/biomet/80.1.27 10.1097/MIB.0000000000000580 10.1093/jnci/djv036 10.1056/NEJMra0905980 10.1093/nar/gkw1133 10.1002/sim.2687 10.1097/MIB.0000000000000524 10.2307/2532051 10.1038/nrg.2015.36 10.1038/nprot.2014.071 10.1016/j.jid.2016.01.013 10.1146/annurev.publhealth.012809.103723 10.1016/j.cgh.2016.02.017 10.1038/ng.2924 10.1038/ng.959 10.1093/hmg/ddr287
ContentType	Journal Article
Copyright	2018 American Society of Human Genetics Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. 2018 American Society of Human Genetics. 2018 American Society of Human Genetics
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Keywords	phenotype hospitals genome-wide association study genetic variation risk electronic health records phenome-wide association study neoplasms humans multifactorial inheritance
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Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Present Address: Department of Biostatistics and Epidemiology, University of Michigan School of Public Health, 1415 Washington Heights, SPH 1 Room 4619, Ann Arbor, MI 48109, USA
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References	Szulkin, Whitington, Eklund, Aly, Eeles, Easton, Kote-Jarai, Amin Al Olama, Benlloch, Muir (bib15) 2015; 75 Manolio (bib2) 2010; 363 Dey, Schmidt, Abecasis, Lee (bib35) 2017; 101 Wang, Zhan, Bragg-Gresham, Kang, Stambolian, Chew, Branham, Heckenlively, Fulton, Wilson (bib24) 2014; 46 Ho, Imai, King, Stuart (bib36) 2011; 42 Brown, Macgregor, Montgomery, Craig, Zhao, Iyadurai, Henders, Homer, Campbell, Stark (bib40) 2008; 40 Auton, Brooks, Durbin, Garrison, Kang, Korbel, Marchini, McCarthy, McVean (bib29) 2015; 526 Carroll, Bastarache, Denny (bib12) 2014; 30 Bishop, Demenais, Iles, Harland, Taylor, Corda, Randerson-Moor, Aitken, Avril, Azizi (bib39) 2009; 41 Turnbull, Ahmed, Morrison, Pernet, Renwick, Maranian, Seal, Ghoussaini, Hines, Healey (bib43) 2010; 42 Ma, Blackwell, Boehnke, Scott (bib47) 2013; 37 Denny, Ritchie, Basford, Pulley, Bastarache, Brown-Gentry, Wang, Masys, Roden, Crawford (bib4) 2010; 26 Chang, Chow, Tellier, Vattikuti, Purcell, Lee (bib22) 2015; 4 Manichaikul, Mychaleckyj, Rich, Daly, Sale, Chen (bib23) 2010; 26 Gudmundsson, Sulem, Gudbjartsson, Jonasson, Masson, He, Jonasdottir, Sigurdsson, Stacey, Johannsdottir (bib44) 2012; 44 Maas, Barrdahl, Joshi, Auer, Gaudet, Milne, Schumacher, Anderson, Check, Chattopadhyay (bib16) 2016; 2 Lin (bib34) 1989; 45 Lin (bib33) 2000; 56 Sudlow, Gallacher, Allen, Beral, Burton, Danesh, Downey, Elliott, Green, Landray (bib48) 2015; 12 Denny, Bastarache, Ritchie, Carroll, Zink, Mosley, Field, Pulley, Ramirez, Bowton (bib5) 2013; 31 Ananthakrishnan, Cagan, Cai, Gainer, Shaw, Savova, Churchill, Karlson, Murphy, Liao, Kohane (bib11) 2016; 22 Bush, Oetjens, Crawford (bib6) 2016; 17 Nan, Xu, Kraft, Qureshi, Chen, Guo, Hu, Curhan, Amos, Wang (bib37) 2011; 20 Welter, MacArthur, Morales, Burdett, Hall, Junkins, Klemm, Flicek, Manolio, Hindorff, Parkinson (bib27) 2014; 42 Hunter, Kraft, Jacobs, Cox, Yeager, Hankinson, Wacholder, Wang, Welch, Hutchinson (bib42) 2007; 39 Asgari, Wang, Ioannidis, Itnyre, Hoffmann, Jorgenson, Whittemore (bib41) 2016; 136 Firth (bib32) 1993; 80 Verma, Verma, Pendergrass, Crawford, Crosslin, Kuivaniemi, Bush, Bradford, Kullo, Bielinski (bib7) 2016; 9 Garcia-Closas, Rothman, Figueroa, Prokunina-Olsson, Han, Baris, Jacobs, Malats, De Vivo, Albanes (bib18) 2013; 73 Barrett, Iles, Harland, Taylor, Aitken, Andresen, Akslen, Armstrong, Avril, Azizi (bib38) 2011; 43 Raychaudhuri (bib3) 2011; 147 Witte (bib1) 2010; 31 Chatterjee, Shi, García-Closas (bib17) 2016; 17 Winkler, Day, Croteau-Chonka, Wood, Locke, Mägi, Ferreira, Fall, Graff, Justice (bib30) 2014; 9 Rasmussen, Overby, Connolly, Chute, Denny, Freimuth, Hartzler, Holm, Manzi, Pathak (bib8) 2016; 7 Ananthakrishnan, Cagan, Cai, Gainer, Shaw, Churchill, Karlson, Murphy, Kohane, Liao, Xavier (bib10) 2015; 21 Morales, Bowler, Buniello, Cerezo, Hall, Harris, Hastings, Junkins, Malangone, McMahon (bib49) 2017 Heinze (bib31) 2006; 25 Jun, Flickinger, Hetrick, Romm, Doheny, Abecasis, Boehnke, Kang (bib20) 2012; 91 Frampton, Houlston (bib14) 2017; 19 MacArthur, Bowler, Cerezo, Gil, Hall, Hastings, Junkins, McMahon, Milano, Morales (bib28) 2017; 45 Hsu, Jeon, Brenner, Gruber, Schoen, Berndt, Chan, Chang-Claude, Du, Gong (bib19) 2015; 148 Mavaddat, Pharoah, Michailidou, Tyrer, Brook, Bolla, Wang, Dennis, Dunning, Shah (bib13) 2015; 107 Li, Absher, Tang, Southwick, Casto, Ramachandran, Cann, Barsh, Feldman, Cavalli-Sforza, Myers (bib25) 2008; 319 McCarthy, Das, Kretzschmar, Delaneau, Wood, Teumer, Kang, Fuchsberger, Danecek, Sharp (bib26) 2016; 48 Ananthakrishnan, Cagan, Cai, Gainer, Shaw, Churchill, Karlson, Murphy, Liao, Kohane (bib9) 2016; 14 Werner, Sammain, Erdmann, Hartmann, Stockfleth, Nast (bib46) 2013; 169 Gudmundsson, Sulem, Gudbjartsson, Jonasson, Sigurdsson, Bergthorsson, He, Blondal, Geller, Jakobsdottir (bib45) 2009; 41 Kent (bib21) 2002; 12 Wang (10.1016/j.ajhg.2018.04.001_bib24) 2014; 46 Morales (10.1016/j.ajhg.2018.04.001_bib49) 2017 Turnbull (10.1016/j.ajhg.2018.04.001_bib43) 2010; 42 Denny (10.1016/j.ajhg.2018.04.001_bib5) 2013; 31 Ananthakrishnan (10.1016/j.ajhg.2018.04.001_bib10) 2015; 21 Werner (10.1016/j.ajhg.2018.04.001_bib46) 2013; 169 Chatterjee (10.1016/j.ajhg.2018.04.001_bib17) 2016; 17 Gudmundsson (10.1016/j.ajhg.2018.04.001_bib44) 2012; 44 Brown (10.1016/j.ajhg.2018.04.001_bib40) 2008; 40 Heinze (10.1016/j.ajhg.2018.04.001_bib31) 2006; 25 McCarthy (10.1016/j.ajhg.2018.04.001_bib26) 2016; 48 MacArthur (10.1016/j.ajhg.2018.04.001_bib28) 2017; 45 Manichaikul (10.1016/j.ajhg.2018.04.001_bib23) 2010; 26 Lin (10.1016/j.ajhg.2018.04.001_bib33) 2000; 56 Barrett (10.1016/j.ajhg.2018.04.001_bib38) 2011; 43 Asgari (10.1016/j.ajhg.2018.04.001_bib41) 2016; 136 Nan (10.1016/j.ajhg.2018.04.001_bib37) 2011; 20 Witte (10.1016/j.ajhg.2018.04.001_bib1) 2010; 31 Ho (10.1016/j.ajhg.2018.04.001_bib36) 2011; 42 Firth (10.1016/j.ajhg.2018.04.001_bib32) 1993; 80 Winkler (10.1016/j.ajhg.2018.04.001_bib30) 2014; 9 Raychaudhuri (10.1016/j.ajhg.2018.04.001_bib3) 2011; 147 Frampton (10.1016/j.ajhg.2018.04.001_bib14) 2017; 19 Manolio (10.1016/j.ajhg.2018.04.001_bib2) 2010; 363 Szulkin (10.1016/j.ajhg.2018.04.001_bib15) 2015; 75 Ananthakrishnan (10.1016/j.ajhg.2018.04.001_bib9) 2016; 14 Welter (10.1016/j.ajhg.2018.04.001_bib27) 2014; 42 Bush (10.1016/j.ajhg.2018.04.001_bib6) 2016; 17 Ananthakrishnan (10.1016/j.ajhg.2018.04.001_bib11) 2016; 22 Ma (10.1016/j.ajhg.2018.04.001_bib47) 2013; 37 Sudlow (10.1016/j.ajhg.2018.04.001_bib48) 2015; 12 Garcia-Closas (10.1016/j.ajhg.2018.04.001_bib18) 2013; 73 Bishop (10.1016/j.ajhg.2018.04.001_bib39) 2009; 41 Dey (10.1016/j.ajhg.2018.04.001_bib35) 2017; 101 Hsu (10.1016/j.ajhg.2018.04.001_bib19) 2015; 148 Kent (10.1016/j.ajhg.2018.04.001_bib21) 2002; 12 Mavaddat (10.1016/j.ajhg.2018.04.001_bib13) 2015; 107 Denny (10.1016/j.ajhg.2018.04.001_bib4) 2010; 26 Carroll (10.1016/j.ajhg.2018.04.001_bib12) 2014; 30 Li (10.1016/j.ajhg.2018.04.001_bib25) 2008; 319 Rasmussen (10.1016/j.ajhg.2018.04.001_bib8) 2016; 7 Jun (10.1016/j.ajhg.2018.04.001_bib20) 2012; 91 Lin (10.1016/j.ajhg.2018.04.001_bib34) 1989; 45 Auton (10.1016/j.ajhg.2018.04.001_bib29) 2015; 526 Gudmundsson (10.1016/j.ajhg.2018.04.001_bib45) 2009; 41 Hunter (10.1016/j.ajhg.2018.04.001_bib42) 2007; 39 Verma (10.1016/j.ajhg.2018.04.001_bib7) 2016; 9 Maas (10.1016/j.ajhg.2018.04.001_bib16) 2016; 2 Chang (10.1016/j.ajhg.2018.04.001_bib22) 2015; 4
References_xml	– volume: 31 start-page: 1102 year: 2013 end-page: 1110 ident: bib5 article-title: Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data publication-title: Nat. Biotechnol. – volume: 22 start-page: 151 year: 2016 end-page: 158 ident: bib11 article-title: Identification of nonresponse to treatment using narrative data in an electronic health record inflammatory bowel disease cohort publication-title: Inflamm. Bowel Dis. – volume: 26 start-page: 2867 year: 2010 end-page: 2873 ident: bib23 article-title: Robust relationship inference in genome-wide association studies publication-title: Bioinformatics – volume: 75 start-page: 1467 year: 2015 end-page: 1474 ident: bib15 article-title: Prediction of individual genetic risk to prostate cancer using a polygenic score publication-title: Prostate – volume: 9 start-page: 32 year: 2016 ident: bib7 article-title: eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants publication-title: BMC Med. Genomics – volume: 147 start-page: 57 year: 2011 end-page: 69 ident: bib3 article-title: Mapping rare and common causal alleles for complex human diseases publication-title: Cell – volume: 21 start-page: 2507 year: 2015 end-page: 2514 ident: bib10 article-title: Common genetic variants influence circulating vitamin D levels in inflammatory bowel diseases publication-title: Inflamm. Bowel Dis. – volume: 41 start-page: 920 year: 2009 end-page: 925 ident: bib39 article-title: Genome-wide association study identifies three loci associated with melanoma risk publication-title: Nat. Genet. – volume: 17 start-page: 392 year: 2016 end-page: 406 ident: bib17 article-title: Developing and evaluating polygenic risk prediction models for stratified disease prevention publication-title: Nat. Rev. Genet. – volume: 19 start-page: 314 year: 2017 end-page: 321 ident: bib14 article-title: Modeling the prevention of colorectal cancer from the combined impact of host and behavioral risk factors publication-title: Genet. Med. – volume: 31 start-page: 9 year: 2010 end-page: 20 ident: bib1 article-title: Genome-wide association studies and beyond publication-title: Annu. Rev. Public Health – volume: 7 start-page: 870 year: 2016 end-page: 882 ident: bib8 article-title: Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER publication-title: Appl. Clin. Inform. – volume: 41 start-page: 460 year: 2009 end-page: 464 ident: bib45 article-title: Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations publication-title: Nat. Genet. – volume: 80 start-page: 27 year: 1993 end-page: 38 ident: bib32 article-title: Bias reduction of maximum likelihood estimates publication-title: Biometrika – volume: 9 start-page: 1192 year: 2014 end-page: 1212 ident: bib30 article-title: Quality control and conduct of genome-wide association meta-analyses publication-title: Nat. Protoc. – volume: 91 start-page: 839 year: 2012 end-page: 848 ident: bib20 article-title: Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data publication-title: Am. J. Hum. Genet. – volume: 17 start-page: 129 year: 2016 end-page: 145 ident: bib6 article-title: Unravelling the human genome-phenome relationship using phenome-wide association studies publication-title: Nat. Rev. Genet. – volume: 12 start-page: e1001779 year: 2015 ident: bib48 article-title: UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age publication-title: PLoS Med. – volume: 25 start-page: 4216 year: 2006 end-page: 4226 ident: bib31 article-title: A comparative investigation of methods for logistic regression with separated or nearly separated data publication-title: Stat. Med. – volume: 136 start-page: 930 year: 2016 end-page: 937 ident: bib41 article-title: Identification of susceptibility loci for cutaneous squamous cell carcinoma publication-title: J. Invest. Dermatol. – volume: 148 start-page: 1330 year: 2015 end-page: 1339 ident: bib19 article-title: A model to determine colorectal cancer risk using common genetic susceptibility loci publication-title: Gastroenterology – volume: 2 start-page: 1295 year: 2016 end-page: 1302 ident: bib16 article-title: Breast cancer risk from modifiable and nonmodifiable risk factors among white women in the United States publication-title: JAMA Oncol. – volume: 4 start-page: 7 year: 2015 ident: bib22 article-title: Second-generation PLINK: rising to the challenge of larger and richer datasets publication-title: Gigascience – volume: 43 start-page: 1108 year: 2011 end-page: 1113 ident: bib38 article-title: Genome-wide association study identifies three new melanoma susceptibility loci publication-title: Nat. Genet. – volume: 363 start-page: 166 year: 2010 end-page: 176 ident: bib2 article-title: Genomewide association studies and assessment of the risk of disease publication-title: N. Engl. J. Med. – volume: 42 start-page: D1001 year: 2014 end-page: D1006 ident: bib27 article-title: The NHGRI GWAS Catalog, a curated resource of SNP-trait associations publication-title: Nucleic Acids Res. – volume: 37 start-page: 539 year: 2013 end-page: 550 ident: bib47 article-title: Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants publication-title: Genet. Epidemiol. – volume: 48 start-page: 1279 year: 2016 end-page: 1283 ident: bib26 article-title: A reference panel of 64,976 haplotypes for genotype imputation publication-title: Nat. Genet. – volume: 319 start-page: 1100 year: 2008 end-page: 1104 ident: bib25 article-title: Worldwide human relationships inferred from genome-wide patterns of variation publication-title: Science – volume: 169 start-page: 502 year: 2013 end-page: 518 ident: bib46 article-title: The natural history of actinic keratosis: a systematic review publication-title: Br. J. Dermatol. – volume: 26 start-page: 1205 year: 2010 end-page: 1210 ident: bib4 article-title: PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations publication-title: Bioinformatics – volume: 56 start-page: 324 year: 2000 end-page: 325 ident: bib33 article-title: A note on the concordance correlation coefficient publication-title: Biometrics – volume: 42 start-page: 1 year: 2011 end-page: 28 ident: bib36 article-title: MatchIt: nonparametric preprocessing for parametric causal inference publication-title: J. Stat. Softw. – volume: 14 start-page: 973 year: 2016 end-page: 979 ident: bib9 article-title: Statin use is associated with reduced risk of colorectal cancer in patients with inflammatory bowel diseases publication-title: Clin. Gastroenterol. Hepatol. – volume: 40 start-page: 838 year: 2008 end-page: 840 ident: bib40 article-title: Common sequence variants on 20q11.22 confer melanoma susceptibility publication-title: Nat. Genet. – volume: 39 start-page: 870 year: 2007 end-page: 874 ident: bib42 article-title: A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer publication-title: Nat. Genet. – volume: 30 start-page: 2375 year: 2014 end-page: 2376 ident: bib12 article-title: R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment publication-title: Bioinformatics – volume: 46 start-page: 409 year: 2014 end-page: 415 ident: bib24 article-title: Ancestry estimation and control of population stratification for sequence-based association studies publication-title: Nat. Genet. – volume: 45 start-page: 255 year: 1989 end-page: 268 ident: bib34 article-title: A concordance correlation coefficient to evaluate reproducibility publication-title: Biometrics – volume: 107 year: 2015 ident: bib13 article-title: Prediction of breast cancer risk based on profiling with common genetic variants publication-title: J. Natl. Cancer Inst. – volume: 12 start-page: 656 year: 2002 end-page: 664 ident: bib21 article-title: BLAT--the BLAST-like alignment tool publication-title: Genome Res. – volume: 20 start-page: 3718 year: 2011 end-page: 3724 ident: bib37 article-title: Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma publication-title: Hum. Mol. Genet. – volume: 73 start-page: 2211 year: 2013 end-page: 2220 ident: bib18 article-title: Common genetic polymorphisms modify the effect of smoking on absolute risk of bladder cancer publication-title: Cancer Res. – volume: 44 start-page: 319 year: 2012 end-page: 322 ident: bib44 article-title: Discovery of common variants associated with low TSH levels and thyroid cancer risk publication-title: Nat. Genet. – volume: 101 start-page: 37 year: 2017 end-page: 49 ident: bib35 article-title: A fast and accurate algorithm to test for binary phenotypes and its application to PheWAS publication-title: Am. J. Hum. Genet. – volume: 526 start-page: 68 year: 2015 end-page: 74 ident: bib29 article-title: A global reference for human genetic variation publication-title: Nature – year: 2017 ident: bib49 article-title: A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog publication-title: bioRxiv – volume: 45 start-page: D896 year: 2017 end-page: D901 ident: bib28 article-title: The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) publication-title: Nucleic Acids Res. – volume: 42 start-page: 504 year: 2010 end-page: 507 ident: bib43 article-title: Genome-wide association study identifies five new breast cancer susceptibility loci publication-title: Nat. Genet. – volume: 56 start-page: 324 year: 2000 ident: 10.1016/j.ajhg.2018.04.001_bib33 article-title: A note on the concordance correlation coefficient publication-title: Biometrics – volume: 319 start-page: 1100 year: 2008 ident: 10.1016/j.ajhg.2018.04.001_bib25 article-title: Worldwide human relationships inferred from genome-wide patterns of variation publication-title: Science doi: 10.1126/science.1153717 – volume: 41 start-page: 920 year: 2009 ident: 10.1016/j.ajhg.2018.04.001_bib39 article-title: Genome-wide association study identifies three loci associated with melanoma risk publication-title: Nat. Genet. doi: 10.1038/ng.411 – volume: 26 start-page: 1205 year: 2010 ident: 10.1016/j.ajhg.2018.04.001_bib4 article-title: PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations publication-title: Bioinformatics doi: 10.1093/bioinformatics/btq126 – volume: 4 start-page: 7 year: 2015 ident: 10.1016/j.ajhg.2018.04.001_bib22 article-title: Second-generation PLINK: rising to the challenge of larger and richer datasets publication-title: Gigascience doi: 10.1186/s13742-015-0047-8 – volume: 75 start-page: 1467 year: 2015 ident: 10.1016/j.ajhg.2018.04.001_bib15 article-title: Prediction of individual genetic risk to prostate cancer using a polygenic score publication-title: Prostate doi: 10.1002/pros.23037 – volume: 17 start-page: 392 year: 2016 ident: 10.1016/j.ajhg.2018.04.001_bib17 article-title: Developing and evaluating polygenic risk prediction models for stratified disease prevention publication-title: Nat. Rev. Genet. doi: 10.1038/nrg.2016.27 – volume: 147 start-page: 57 year: 2011 ident: 10.1016/j.ajhg.2018.04.001_bib3 article-title: Mapping rare and common causal alleles for complex human diseases publication-title: Cell doi: 10.1016/j.cell.2011.09.011 – volume: 44 start-page: 319 year: 2012 ident: 10.1016/j.ajhg.2018.04.001_bib44 article-title: Discovery of common variants associated with low TSH levels and thyroid cancer risk publication-title: Nat. Genet. doi: 10.1038/ng.1046 – volume: 148 start-page: 1330 year: 2015 ident: 10.1016/j.ajhg.2018.04.001_bib19 article-title: A model to determine colorectal cancer risk using common genetic susceptibility loci publication-title: Gastroenterology doi: 10.1053/j.gastro.2015.02.010 – volume: 19 start-page: 314 year: 2017 ident: 10.1016/j.ajhg.2018.04.001_bib14 article-title: Modeling the prevention of colorectal cancer from the combined impact of host and behavioral risk factors publication-title: Genet. Med. doi: 10.1038/gim.2016.101 – volume: 42 start-page: D1001 year: 2014 ident: 10.1016/j.ajhg.2018.04.001_bib27 article-title: The NHGRI GWAS Catalog, a curated resource of SNP-trait associations publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkt1229 – volume: 42 start-page: 504 year: 2010 ident: 10.1016/j.ajhg.2018.04.001_bib43 article-title: Genome-wide association study identifies five new breast cancer susceptibility loci publication-title: Nat. Genet. doi: 10.1038/ng.586 – volume: 30 start-page: 2375 year: 2014 ident: 10.1016/j.ajhg.2018.04.001_bib12 article-title: R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment publication-title: Bioinformatics doi: 10.1093/bioinformatics/btu197 – volume: 91 start-page: 839 year: 2012 ident: 10.1016/j.ajhg.2018.04.001_bib20 article-title: Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2012.09.004 – volume: 39 start-page: 870 year: 2007 ident: 10.1016/j.ajhg.2018.04.001_bib42 article-title: A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer publication-title: Nat. Genet. doi: 10.1038/ng2075 – volume: 40 start-page: 838 year: 2008 ident: 10.1016/j.ajhg.2018.04.001_bib40 article-title: Common sequence variants on 20q11.22 confer melanoma susceptibility publication-title: Nat. Genet. doi: 10.1038/ng.163 – volume: 41 start-page: 460 year: 2009 ident: 10.1016/j.ajhg.2018.04.001_bib45 article-title: Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations publication-title: Nat. Genet. doi: 10.1038/ng.339 – volume: 7 start-page: 870 year: 2016 ident: 10.1016/j.ajhg.2018.04.001_bib8 article-title: Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER publication-title: Appl. Clin. Inform. doi: 10.4338/ACI-2016-04-RA-0060 – volume: 26 start-page: 2867 year: 2010 ident: 10.1016/j.ajhg.2018.04.001_bib23 article-title: Robust relationship inference in genome-wide association studies publication-title: Bioinformatics doi: 10.1093/bioinformatics/btq559 – volume: 101 start-page: 37 year: 2017 ident: 10.1016/j.ajhg.2018.04.001_bib35 article-title: A fast and accurate algorithm to test for binary phenotypes and its application to PheWAS publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2017.05.014 – volume: 73 start-page: 2211 year: 2013 ident: 10.1016/j.ajhg.2018.04.001_bib18 article-title: Common genetic polymorphisms modify the effect of smoking on absolute risk of bladder cancer publication-title: Cancer Res. doi: 10.1158/0008-5472.CAN-12-2388 – volume: 12 start-page: e1001779 year: 2015 ident: 10.1016/j.ajhg.2018.04.001_bib48 article-title: UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age publication-title: PLoS Med. doi: 10.1371/journal.pmed.1001779 – volume: 9 start-page: 32 issue: Suppl 1 year: 2016 ident: 10.1016/j.ajhg.2018.04.001_bib7 article-title: eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants publication-title: BMC Med. Genomics doi: 10.1186/s12920-016-0191-8 – volume: 48 start-page: 1279 year: 2016 ident: 10.1016/j.ajhg.2018.04.001_bib26 article-title: A reference panel of 64,976 haplotypes for genotype imputation publication-title: Nat. Genet. doi: 10.1038/ng.3643 – volume: 12 start-page: 656 year: 2002 ident: 10.1016/j.ajhg.2018.04.001_bib21 article-title: BLAT--the BLAST-like alignment tool publication-title: Genome Res. – volume: 37 start-page: 539 year: 2013 ident: 10.1016/j.ajhg.2018.04.001_bib47 article-title: Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants publication-title: Genet. Epidemiol. doi: 10.1002/gepi.21742 – volume: 2 start-page: 1295 year: 2016 ident: 10.1016/j.ajhg.2018.04.001_bib16 article-title: Breast cancer risk from modifiable and nonmodifiable risk factors among white women in the United States publication-title: JAMA Oncol. doi: 10.1001/jamaoncol.2016.1025 – year: 2017 ident: 10.1016/j.ajhg.2018.04.001_bib49 article-title: A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog publication-title: bioRxiv – volume: 169 start-page: 502 year: 2013 ident: 10.1016/j.ajhg.2018.04.001_bib46 article-title: The natural history of actinic keratosis: a systematic review publication-title: Br. J. Dermatol. doi: 10.1111/bjd.12420 – volume: 31 start-page: 1102 year: 2013 ident: 10.1016/j.ajhg.2018.04.001_bib5 article-title: Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data publication-title: Nat. Biotechnol. doi: 10.1038/nbt.2749 – volume: 526 start-page: 68 year: 2015 ident: 10.1016/j.ajhg.2018.04.001_bib29 article-title: A global reference for human genetic variation publication-title: Nature doi: 10.1038/nature15393 – volume: 80 start-page: 27 year: 1993 ident: 10.1016/j.ajhg.2018.04.001_bib32 article-title: Bias reduction of maximum likelihood estimates publication-title: Biometrika doi: 10.1093/biomet/80.1.27 – volume: 22 start-page: 151 year: 2016 ident: 10.1016/j.ajhg.2018.04.001_bib11 article-title: Identification of nonresponse to treatment using narrative data in an electronic health record inflammatory bowel disease cohort publication-title: Inflamm. Bowel Dis. doi: 10.1097/MIB.0000000000000580 – volume: 107 year: 2015 ident: 10.1016/j.ajhg.2018.04.001_bib13 article-title: Prediction of breast cancer risk based on profiling with common genetic variants publication-title: J. Natl. Cancer Inst. doi: 10.1093/jnci/djv036 – volume: 363 start-page: 166 year: 2010 ident: 10.1016/j.ajhg.2018.04.001_bib2 article-title: Genomewide association studies and assessment of the risk of disease publication-title: N. Engl. J. Med. doi: 10.1056/NEJMra0905980 – volume: 42 start-page: 1 year: 2011 ident: 10.1016/j.ajhg.2018.04.001_bib36 article-title: MatchIt: nonparametric preprocessing for parametric causal inference publication-title: J. Stat. Softw. – volume: 45 start-page: D896 issue: D1 year: 2017 ident: 10.1016/j.ajhg.2018.04.001_bib28 article-title: The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkw1133 – volume: 25 start-page: 4216 year: 2006 ident: 10.1016/j.ajhg.2018.04.001_bib31 article-title: A comparative investigation of methods for logistic regression with separated or nearly separated data publication-title: Stat. Med. doi: 10.1002/sim.2687 – volume: 21 start-page: 2507 year: 2015 ident: 10.1016/j.ajhg.2018.04.001_bib10 article-title: Common genetic variants influence circulating vitamin D levels in inflammatory bowel diseases publication-title: Inflamm. Bowel Dis. doi: 10.1097/MIB.0000000000000524 – volume: 45 start-page: 255 year: 1989 ident: 10.1016/j.ajhg.2018.04.001_bib34 article-title: A concordance correlation coefficient to evaluate reproducibility publication-title: Biometrics doi: 10.2307/2532051 – volume: 17 start-page: 129 year: 2016 ident: 10.1016/j.ajhg.2018.04.001_bib6 article-title: Unravelling the human genome-phenome relationship using phenome-wide association studies publication-title: Nat. Rev. Genet. doi: 10.1038/nrg.2015.36 – volume: 9 start-page: 1192 year: 2014 ident: 10.1016/j.ajhg.2018.04.001_bib30 article-title: Quality control and conduct of genome-wide association meta-analyses publication-title: Nat. Protoc. doi: 10.1038/nprot.2014.071 – volume: 136 start-page: 930 year: 2016 ident: 10.1016/j.ajhg.2018.04.001_bib41 article-title: Identification of susceptibility loci for cutaneous squamous cell carcinoma publication-title: J. Invest. Dermatol. doi: 10.1016/j.jid.2016.01.013 – volume: 31 start-page: 9 year: 2010 ident: 10.1016/j.ajhg.2018.04.001_bib1 article-title: Genome-wide association studies and beyond publication-title: Annu. Rev. Public Health doi: 10.1146/annurev.publhealth.012809.103723 – volume: 14 start-page: 973 year: 2016 ident: 10.1016/j.ajhg.2018.04.001_bib9 article-title: Statin use is associated with reduced risk of colorectal cancer in patients with inflammatory bowel diseases publication-title: Clin. Gastroenterol. Hepatol. doi: 10.1016/j.cgh.2016.02.017 – volume: 46 start-page: 409 year: 2014 ident: 10.1016/j.ajhg.2018.04.001_bib24 article-title: Ancestry estimation and control of population stratification for sequence-based association studies publication-title: Nat. Genet. doi: 10.1038/ng.2924 – volume: 43 start-page: 1108 year: 2011 ident: 10.1016/j.ajhg.2018.04.001_bib38 article-title: Genome-wide association study identifies three new melanoma susceptibility loci publication-title: Nat. Genet. doi: 10.1038/ng.959 – volume: 20 start-page: 3718 year: 2011 ident: 10.1016/j.ajhg.2018.04.001_bib37 article-title: Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddr287
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SubjectTerms	Calibration electronic health records Female Genetic Association Studies genetic variation Genome-Wide Association Study Genomics hospitals Humans Male Middle Aged multifactorial inheritance Multifactorial Inheritance - genetics neoplasms Neoplasms - diagnosis Neoplasms - genetics Neoplasms - pathology phenome-wide association study Phenotype Polymorphism, Single Nucleotide - genetics Quantitative Trait, Heritable Reproducibility of Results risk Risk Factors Time Factors
Title	Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative
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