{"id":"https://openalex.org/W2883973902","doi":"https://doi.org/10.1038/s41598-018-29634-w","title":"Using whole genome scores to compare three clinical phenotyping methods in complex diseases","display_name":"Using whole genome scores to compare three clinical phenotyping methods in complex diseases","publication_year":2018,"publication_date":"2018-07-23","ids":{"openalex":"https://openalex.org/W2883973902","doi":"https://doi.org/10.1038/s41598-018-29634-w","mag":"2883973902","pmid":"https://pubmed.ncbi.nlm.nih.gov/30054501","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6063939"},"language":"en","primary_location":{"id":"doi:10.1038/s41598-018-29634-w","doi":"https://doi.org/10.1038/s41598-018-29634-w","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41598-018-29634-w","pdf_url":"https://www.nature.com/articles/s41598-018-29634-w.pdf","source":{"id":"https://openalex.org/S196734849","display_name":"Scientific Reports","issn_l":"2045-2322","issn":["2045-2322"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific Reports","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41598-018-29634-w.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5051376406","display_name":"Wenyu Song","orcid":"https://orcid.org/0000-0001-6146-4093","observed_orcids":["https://orcid.org/0000-0001-6146-4093"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wenyu Song","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, 02115, USA","Division of General Internal Medicine and Primary Care, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, 02120, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, 02115, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of General Internal Medicine and Primary Care, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, 02120, USA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026771827","display_name":"Hailiang Huang","orcid":"https://orcid.org/0000-0003-1461-5762","observed_orcids":["https://orcid.org/0000-0003-1461-5762"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210087915","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210087915","https://openalex.org/I48633490"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hailiang Huang","raw_affiliation_strings":["Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, 02114, USA","Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02142, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, 02114, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210087915"]},{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02142, USA","institution_ids":["https://openalex.org/I107606265"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101445843","display_name":"Cheng\u2010Zhong Zhang","orcid":"https://orcid.org/0000-0001-8825-7158","observed_orcids":["https://orcid.org/0000-0001-8825-7158"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I4210117453","display_name":"Dana-Farber Cancer Institute","ror":"https://ror.org/02jzgtq86","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210117453"]},{"id":"https://openalex.org/I4210134579","display_name":"Dana-Farber/Harvard Cancer Center","ror":"https://ror.org/03pvyf116","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I136199984","https://openalex.org/I4210117453","https://openalex.org/I4210134579"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cheng-Zhong Zhang","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02142, USA","Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, 02115, USA","Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts, 02215, USA"],"raw_orcid":"https://orcid.org/0000-0001-8825-7158","affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02142, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, 02115, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Department of Biostatistics and Computational Biology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts, 02215, USA","institution_ids":["https://openalex.org/I136199984","https://openalex.org/I4210117453","https://openalex.org/I4210134579"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036110536","display_name":"David Westfall Bates","orcid":"https://orcid.org/0000-0001-6268-1540","observed_orcids":["https://orcid.org/0000-0001-6268-1540","https://orcid.org/0000-0003-4850-2360","https://orcid.org/0000-0001-7438-9491","https://orcid.org/0000-0002-3105-156X","https://orcid.org/0000-0001-5440-6039"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David W. Bates","raw_affiliation_strings":["Division of General Internal Medicine and Primary Care, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, 02120, USA","Information Systems Department, Partners HealthCare, Somerville, Massachusetts, 02145, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of General Internal Medicine and Primary Care, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, 02120, USA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Information Systems Department, Partners HealthCare, Somerville, Massachusetts, 02145, USA","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5004738173","display_name":"Adam T. Wright","orcid":"https://orcid.org/0000-0001-6844-145X","observed_orcids":["https://orcid.org/0000-0001-6844-145X"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Adam Wright","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, 02115, USA. AWRIGHT@BWH.HARVARD.EDU","Division of General Internal Medicine and Primary Care, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, 02120, USA. AWRIGHT@BWH.HARVARD.EDU","Information Systems Department, Partners HealthCare, Somerville, Massachusetts, 02145, USA. AWRIGHT@BWH.HARVARD.EDU","Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, 02115, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, 02115, USA. AWRIGHT@BWH.HARVARD.EDU","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of General Internal Medicine and Primary Care, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, 02120, USA. AWRIGHT@BWH.HARVARD.EDU","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Information Systems Department, Partners HealthCare, Somerville, Massachusetts, 02145, USA. AWRIGHT@BWH.HARVARD.EDU","institution_ids":[]},{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, 02115, USA","institution_ids":["https://openalex.org/I136199984"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5004738173"],"corresponding_institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"],"apc_list":{"value":2690,"currency":"USD","value_usd":2690},"apc_paid":{"value":2690,"currency":"USD","value_usd":2690},"fwci":0.8041,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.7084049,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"8","issue":"1","first_page":"11360","last_page":"11360"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9794999957084656,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9794999957084656,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T14393","display_name":"Health, Environment, Cognitive Aging","score":0.0034000000450760126,"subfield":{"id":"https://openalex.org/subfields/2307","display_name":"Health, Toxicology and Mutagenesis"},"field":{"id":"https://openalex.org/fields/23","display_name":"Environmental Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T13702","display_name":"Machine Learning in Healthcare","score":0.002099999925121665,"subfield":{"id":"https://openalex.org/subfields/1702","display_name":"Artificial Intelligence"},"field":{"id":"https://openalex.org/fields/17","display_name":"Computer Science"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/electronic-health-records","display_name":"electronic health records","score":0.8640000224113464},{"id":"https://openalex.org/keywords/phenotyping","display_name":"phenotyping","score":0.6700000166893005},{"id":"https://openalex.org/keywords/polygenic-risk-score","display_name":"polygenic risk score","score":0.7229999899864197},{"id":"https://openalex.org/keywords/type-1-diabetes","display_name":"type 1 diabetes","score":0.9390000104904175},{"id":"https://openalex.org/keywords/type-2-diabetes","display_name":"type 2 diabetes","score":1.0},{"id":"https://openalex.org/keywords/coronary-artery-disease","display_name":"coronary artery disease","score":1.0},{"id":"https://openalex.org/keywords/breast-cancer","display_name":"breast cancer","score":0.9950000047683716},{"id":"https://openalex.org/keywords/complex-diseases","display_name":"complex diseases","score":0.7350000143051147}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5888851881027222},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5541297793388367},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5127562284469604},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4850444197654724},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.47603726387023926},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.439611554145813},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.37702107429504395},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3527263402938843},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2955014407634735},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.2654678225517273},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.26174941658973694},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.15324214100837708},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1497267484664917},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.13670212030410767}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004194","descriptor_name":"Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012372","descriptor_name":"ROC Curve","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020412","descriptor_name":"Multifactorial Inheritance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1038/s41598-018-29634-w","doi":"https://doi.org/10.1038/s41598-018-29634-w","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41598-018-29634-w","pdf_url":"https://www.nature.com/articles/s41598-018-29634-w.pdf","source":{"id":"https://openalex.org/S196734849","display_name":"Scientific Reports","issn_l":"2045-2322","issn":["2045-2322"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific Reports","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:5022731","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC6063939","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:6063939","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6063939","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Sci Rep","raw_type":"Text"},{"id":"pmid:30054501","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30054501","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific reports","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:000fc51b3ef34b92a0ae69924c5eab62","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/000fc51b3ef34b92a0ae69924c5eab62","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1038/s41598-018-29634-w","doi":"https://doi.org/10.1038/s41598-018-29634-w","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41598-018-29634-w","pdf_url":"https://www.nature.com/articles/s41598-018-29634-w.pdf","source":{"id":"https://openalex.org/S196734849","display_name":"Scientific Reports","issn_l":"2045-2322","issn":["2045-2322"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Scientific Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9789000153541565}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G1006743099","display_name":"Genetics and gene regulation in the inflammatory bowel diseases","funder_award_id":"K01DK114379","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G3714794594","display_name":"Improving Quality by Maintaining Accurate Problem Lists in the EHR (IQ-MAPLE)","funder_award_id":"R01HL122225","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G9000904321","display_name":"Biomedical Informatics and Data Science Research Training Program (BIRT)","funder_award_id":"T15LM007092","funder_id":"https://openalex.org/F4320337372","funder_display_name":"U.S. National Library of Medicine"}],"funders":[{"id":"https://openalex.org/F4320308349","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78"},{"id":"https://openalex.org/F4320314070","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142"},{"id":"https://openalex.org/F4320320286","display_name":"University College London","ror":"https://ror.org/02jx3x895"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337372","display_name":"U.S. National Library of Medicine","ror":"https://ror.org/0060t0j89"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2883973902.pdf","grobid_xml":"https://content.openalex.org/works/W2883973902.grobid-xml"},"referenced_works_count":51,"referenced_works":["https://openalex.org/W1779612606","https://openalex.org/W1878939331","https://openalex.org/W1974660612","https://openalex.org/W1980991473","https://openalex.org/W1990700240","https://openalex.org/W2000462021","https://openalex.org/W2008047653","https://openalex.org/W2027867013","https://openalex.org/W2032457672","https://openalex.org/W2047031218","https://openalex.org/W2057913811","https://openalex.org/W2058881505","https://openalex.org/W2070533721","https://openalex.org/W2088825194","https://openalex.org/W2095807313","https://openalex.org/W2098597355","https://openalex.org/W2101605059","https://openalex.org/W2103193738","https://openalex.org/W2107021160","https://openalex.org/W2109498123","https://openalex.org/W2113129492","https://openalex.org/W2113952938","https://openalex.org/W2120817231","https://openalex.org/W2132981035","https://openalex.org/W2134783591","https://openalex.org/W2138162199","https://openalex.org/W2148749248","https://openalex.org/W2154674126","https://openalex.org/W2155496693","https://openalex.org/W2157752701","https://openalex.org/W2161633633","https://openalex.org/W2164412910","https://openalex.org/W2195783463","https://openalex.org/W2201595259","https://openalex.org/W2279605650","https://openalex.org/W2281586245","https://openalex.org/W2283222487","https://openalex.org/W2345958530","https://openalex.org/W2442455292","https://openalex.org/W2461793432","https://openalex.org/W2510387549","https://openalex.org/W2587804655","https://openalex.org/W2617742891","https://openalex.org/W2643736295","https://openalex.org/W2724938313","https://openalex.org/W2759607688","https://openalex.org/W2762181533","https://openalex.org/W2765253743","https://openalex.org/W2765693998","https://openalex.org/W2778227858","https://openalex.org/W2951938323"],"related_works":["https://openalex.org/W1974660612","https://openalex.org/W3088156227","https://openalex.org/W7127080584","https://openalex.org/W4412793458","https://openalex.org/W2290189795","https://openalex.org/W4415790384","https://openalex.org/W2760829732","https://openalex.org/W3015900446","https://openalex.org/W2736452443","https://openalex.org/W7123504125"],"abstract_inverted_index":{"Genome-wide":[0],"association":[1,53,149],"studies":[2,24],"depend":[3],"on":[4],"accurate":[5],"ascertainment":[6],"of":[7,26,67,147],"patient":[8],"phenotype.":[9],"However,":[10],"phenotyping":[11,62,112],"is":[12,16],"difficult,":[13],"and":[14,59,83,91,127],"it":[15],"often":[17],"treated":[18],"as":[19,46],"an":[20],"afterthought":[21],"in":[22,64],"these":[23,118],"because":[25],"the":[27,105,120,124,128,145],"expense":[28],"involved.":[29],"Electronic":[30],"health":[31],"records":[32],"(EHRs)":[33],"may":[34],"provide":[35],"higher":[36],"fidelity":[37],"phenotypes":[38,100,141],"for":[39,71,117],"genomic":[40],"research":[41],"than":[42],"other":[43],"sources":[44],"such":[45],"administrative":[47,60,132],"data.":[48,134],"We":[49,114],"used":[50],"whole":[51],"genome":[52],"models":[54,94],"to":[55],"evaluate":[56],"different":[57,97],"EHR":[58],"data-based":[61],"methods":[63],"a":[65,110],"cohort":[66],"16,858":[68],"Caucasian":[69],"subjects":[70],"type":[72,76],"1":[73],"diabetes":[74,78],"mellitus,":[75,79],"2":[77],"coronary":[80],"artery":[81],"disease":[82],"breast":[84],"cancer.":[85],"For":[86],"each":[87],"disease,":[88],"we":[89],"trained":[90],"evaluated":[92],"polygenic":[93],"using":[95,138],"three":[96],"phenotype":[98,122],"definitions:":[99],"derived":[101],"from":[102],"billing":[103,133],"data,":[104],"clinical":[106],"problem":[107,125,129],"list,":[108,126],"or":[109],"curated":[111,121],"algorithm.":[113],"observed":[115],"that":[116,137],"diseases,":[119],"outperformed":[123,131],"list":[130],"This":[135],"suggests":[136],"advanced":[139],"EHR-derived":[140],"can":[142],"further":[143],"increase":[144],"power":[146],"genome-wide":[148],"studies.":[150]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2018-08-03T00:00:00"}