{"doi":"10.1038/nbt.2749","title":"Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data","abstract":null,"journal":"Nature Biotechnology","year":2013,"id":595135,"datarank":1.0555541422029415,"base_score":7.037027614686276,"endowment":7.037027614686276,"self_citation_contribution":1.0555541422029415,"citation_network_contribution":0.0,"self_endowment_contribution":1.0555541422029415,"citer_contribution":0.0,"corpus_percentile":80.7,"corpus_rank":2512,"citation_count":1137,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":31022,"name":"Lisa Bastarache","orcid":null,"position":1,"is_corresponding":false},{"id":1408949,"name":"Marylyn D Ritchie","orcid":null,"position":2,"is_corresponding":false},{"id":1523801,"name":"Robert J Carroll","orcid":null,"position":3,"is_corresponding":false},{"id":1523802,"name":"Raquel Zink","orcid":null,"position":4,"is_corresponding":false},{"id":1523803,"name":"Jonathan D Mosley","orcid":null,"position":5,"is_corresponding":false},{"id":1523804,"name":"Julie R Field","orcid":null,"position":6,"is_corresponding":false},{"id":1523805,"name":"Jill M Pulley","orcid":null,"position":7,"is_corresponding":false},{"id":1523806,"name":"Andrea H Ramirez","orcid":null,"position":8,"is_corresponding":false},{"id":1523807,"name":"Erica Bowton","orcid":null,"position":9,"is_corresponding":false},{"id":1523808,"name":"Melissa A Basford","orcid":null,"position":10,"is_corresponding":false},{"id":1523809,"name":"David S Carrell","orcid":null,"position":11,"is_corresponding":false},{"id":1523810,"name":"Peggy L Peissig","orcid":null,"position":12,"is_corresponding":false},{"id":21788,"name":"Abel N Kho","orcid":null,"position":13,"is_corresponding":false},{"id":1523811,"name":"Jennifer A Pacheco","orcid":null,"position":14,"is_corresponding":false},{"id":1523812,"name":"Luke V Rasmussen","orcid":null,"position":15,"is_corresponding":false},{"id":1523813,"name":"David R Crosslin","orcid":null,"position":16,"is_corresponding":false},{"id":1461992,"name":"Paul K Crane","orcid":null,"position":17,"is_corresponding":false},{"id":255218,"name":"Jyotishman Pathak","orcid":"0000-0002-4856-410X","position":18,"is_corresponding":false},{"id":1523814,"name":"Suzette J Bielinski","orcid":null,"position":19,"is_corresponding":false},{"id":1523815,"name":"Sarah A Pendergrass","orcid":null,"position":20,"is_corresponding":false},{"id":1468658,"name":"Hua Xu","orcid":"0000-0001-5478-6879","position":21,"is_corresponding":false},{"id":1523816,"name":"Lucia A Hindorff","orcid":null,"position":22,"is_corresponding":false},{"id":115850,"name":"Rongling Li","orcid":null,"position":23,"is_corresponding":false},{"id":1523817,"name":"Teri A Manolio","orcid":null,"position":24,"is_corresponding":false},{"id":1523818,"name":"Christopher G Chute","orcid":null,"position":25,"is_corresponding":false},{"id":1523819,"name":"Rex L Chisholm","orcid":null,"position":26,"is_corresponding":false},{"id":1523820,"name":"Eric B Larson","orcid":null,"position":27,"is_corresponding":false},{"id":1289957,"name":"Gail P Jarvik","orcid":null,"position":28,"is_corresponding":false},{"id":1523821,"name":"Murray H Brilliant","orcid":null,"position":29,"is_corresponding":false},{"id":1523822,"name":"Catherine A McCarty","orcid":null,"position":30,"is_corresponding":false},{"id":1523823,"name":"Iftikhar J Kullo","orcid":null,"position":31,"is_corresponding":false},{"id":1463650,"name":"Jonathan L Haines","orcid":null,"position":32,"is_corresponding":false},{"id":1523824,"name":"Dana C Crawford","orcid":null,"position":33,"is_corresponding":false},{"id":1523825,"name":"Daniel R Masys","orcid":null,"position":34,"is_corresponding":false},{"id":1284488,"name":"Dan M Roden","orcid":null,"position":35,"is_corresponding":false},{"id":113692,"name":"Joshua C Denny","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data","abstract":"Candidate gene and genome-wide association studies (GWAS) have identified genetic variants that modulate risk for human disease; many of these associations require further study to replicate the results. Here we report the first large-scale application of the phenome-wide association study (PheWAS) paradigm within electronic medical records (EMRs), an unbiased approach to replication and discovery that interrogates relationships between targeted genotypes and multiple phenotypes. We scanned for associations between 3,144 single-nucleotide polymorphisms (previously implicated by GWAS as mediators of human traits) and 1,358 EMR-derived phenotypes in 13,835 individuals of European ancestry. This PheWAS replicated 66% (51/77) of sufficiently powered prior GWAS associations and revealed 63 potentially pleiotropic associations with P < 4.6 × 10⁻⁶ (false discovery rate < 0.1); the strongest of these novel associations were replicated in an independent cohort (n = 7,406). These findings validate PheWAS as a tool to allow unbiased interrogation across multiple phenotypes in EMR-based cohorts and to enhance analysis of the genomic basis of human disease.","is_dataset_classified":null,"base_score":7.037027614686276,"endowment":7.037027614686276,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"24270849","pmcid":"PMC3969265","openalex_id":"https://openalex.org/W1969208427","authors":[],"funders":[{"funder_name":"NLM NIH HHS","grant_id":"R01-LM010685","title":null},{"funder_name":"NHGRI NIH HHS","grant_id":"U01 HG006375","title":null},{"funder_name":"NHGRI NIH HHS","grant_id":"U01 HG006389","title":null},{"funder_name":"NHGRI NIH HHS","grant_id":"U01-HG004599","title":null},{"funder_name":"NHGRI NIH HHS","grant_id":"U01-HG004603","title":null},{"funder_name":"NHGRI NIH HHS","grant_id":"U01-HG004608","title":null},{"funder_name":"NHGRI NIH 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Associations"},{"funder_name":"National Institutes of Health","grant_id":"3U01HG006388-01S1","title":"A Personalized Genomic Medicine Pilot Program Using the NJgene eMERGE Experience"},{"funder_name":"National Institutes of Health","grant_id":"1U01HG004610-01","title":"Development and Use of Network Infrastructure for High-Throughput GWA Studies"},{"funder_name":"National Institutes of Health","grant_id":"6UL1TR000445-11","title":"The Vanderbilt Institute for Clinical and Translational Research (VICTR)"},{"funder_name":"National Institutes of Health","grant_id":"5U01HG004438-04","title":"JH/CIDR Genotyping for Genome-Wide Association Studies"},{"funder_name":"National Institutes of Health","grant_id":"1U01HG004603-01","title":"Vanderbilt Genome-Electronic Records Project"},{"funder_name":"National Institutes of Health","grant_id":"3U01HG006389-03S1","title":"IRIS: Incorporating Research Into Sight"},{"funder_name":"National Institutes of 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