{"id":"https://openalex.org/W2769008348","doi":"https://doi.org/10.1111/cts.12522","title":"Genome\u2010wide and Phenome\u2010wide Approaches to Understand Variable Drug Actions in Electronic Health Records","display_name":"Genome\u2010wide and Phenome\u2010wide Approaches to Understand Variable Drug Actions in Electronic Health Records","publication_year":2017,"publication_date":"2017-11-17","ids":{"openalex":"https://openalex.org/W2769008348","doi":"https://doi.org/10.1111/cts.12522","mag":"2769008348","pmid":"https://pubmed.ncbi.nlm.nih.gov/29148204","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5866959"},"language":"en","primary_location":{"id":"doi:10.1111/cts.12522","doi":"https://doi.org/10.1111/cts.12522","is_oa":true,"landing_page_url":"https://doi.org/10.1111/cts.12522","pdf_url":"https://ascpt.onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cts.12522","source":{"id":"https://openalex.org/S106654227","display_name":"Clinical and Translational Science","issn_l":"1752-8054","issn":["1752-8054","1752-8062"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical and Translational Science","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ascpt.onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cts.12522","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017072310","display_name":"Jamie R. Robinson","orcid":"https://orcid.org/0000-0003-0888-0156","observed_orcids":["https://orcid.org/0000-0003-0888-0156"]},"institutions":[{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Jamie R. Robinson","raw_affiliation_strings":["Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA","Department of Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I901861585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070908224","display_name":"Joshua C. Denny","orcid":"https://orcid.org/0000-0002-3049-7332","observed_orcids":["https://orcid.org/0000-0002-3049-7332"]},"institutions":[{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joshua C. Denny","raw_affiliation_strings":["Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA","Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I901861585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058141203","display_name":"Dan M. Roden","orcid":"https://orcid.org/0000-0002-6302-0389","observed_orcids":["https://orcid.org/0000-0002-6302-0389"]},"institutions":[{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dan M. Roden","raw_affiliation_strings":["Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA","Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA","Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I901861585"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087026299","display_name":"Sara L. Van Driest","orcid":"https://orcid.org/0000-0003-2580-1405","observed_orcids":["https://orcid.org/0000-0003-2580-1405"]},"institutions":[{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sara L. Van Driest","raw_affiliation_strings":["Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA","Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I901861585"]},{"raw_affiliation_string":"Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA","institution_ids":["https://openalex.org/I901861585"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5017072310"],"corresponding_institution_ids":["https://openalex.org/I901861585"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":0.529,"has_fulltext":true,"cited_by_count":48,"citation_normalized_percentile":{"value":0.48422283,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"11","issue":"2","first_page":"112","last_page":"122"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.8999000191688538,"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":0.8999000191688538,"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/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.06920000165700912,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11943","display_name":"Pharmacovigilance and Adverse Drug Reactions","score":0.0031999999191612005,"subfield":{"id":"https://openalex.org/subfields/3005","display_name":"Toxicology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"genome-wide association study","score":0.9020000100135803},{"id":"https://openalex.org/keywords/phenome-wide-association-study","display_name":"phenome-wide association study","score":0.9990000128746033},{"id":"https://openalex.org/keywords/electronic-health-records","display_name":"electronic health records","score":0.796999990940094},{"id":"https://openalex.org/keywords/pharmacogenomics","display_name":"pharmacogenomics","score":0.703000009059906},{"id":"https://openalex.org/keywords/drug-repurposing","display_name":"drug repurposing","score":0.6850000023841858},{"id":"https://openalex.org/keywords/personalized-medicine","display_name":"personalized medicine","score":0.7120000123977661},{"id":"https://openalex.org/keywords/drug-development","display_name":"drug development","score":0.43799999356269836},{"id":"https://openalex.org/keywords/adverse-drug-reactions","display_name":"adverse drug reactions","score":0.6169999837875366},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.781000018119812},{"id":"https://openalex.org/keywords/genotype-imputation","display_name":"genotype imputation","score":0.6740000247955322},{"id":"https://openalex.org/keywords/multiple-testing-correction","display_name":"multiple testing correction","score":0.46700000762939453},{"id":"https://openalex.org/keywords/longitudinal-health-data","display_name":"longitudinal health data","score":0.597000002861023},{"id":"https://openalex.org/keywords/drug-discovery-targets","display_name":"drug discovery targets","score":0.36500000953674316},{"id":"https://openalex.org/keywords/clinical-pharmacology","display_name":"clinical pharmacology","score":0.593999981880188},{"id":"https://openalex.org/keywords/drug-efficacy","display_name":"drug efficacy","score":0.367000013589859},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.49300000071525574}],"concepts":[{"id":"https://openalex.org/C7952369","wikidata":"https://www.wikidata.org/wiki/Q844116","display_name":"Phenome","level":4,"score":0.8447828888893127},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.6677985191345215},{"id":"https://openalex.org/C103637391","wikidata":"https://www.wikidata.org/wiki/Q5308921","display_name":"Drug repositioning","level":3,"score":0.6058213710784912},{"id":"https://openalex.org/C64903051","wikidata":"https://www.wikidata.org/wiki/Q2198549","display_name":"Drug development","level":3,"score":0.5733368992805481},{"id":"https://openalex.org/C519536355","wikidata":"https://www.wikidata.org/wiki/Q21021151","display_name":"Repurposing","level":2,"score":0.5666584372520447},{"id":"https://openalex.org/C170734499","wikidata":"https://www.wikidata.org/wiki/Q1152227","display_name":"Pharmacogenomics","level":2,"score":0.4873529374599457},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.48429837822914124},{"id":"https://openalex.org/C2780035454","wikidata":"https://www.wikidata.org/wiki/Q8386","display_name":"Drug","level":2,"score":0.48082125186920166},{"id":"https://openalex.org/C535046627","wikidata":"https://www.wikidata.org/wiki/Q30612","display_name":"Clinical trial","level":2,"score":0.46678292751312256},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4663628339767456},{"id":"https://openalex.org/C89611455","wikidata":"https://www.wikidata.org/wiki/Q6804646","display_name":"Mechanism (biology)","level":2,"score":0.4334942698478699},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.42217564582824707},{"id":"https://openalex.org/C74187038","wikidata":"https://www.wikidata.org/wiki/Q1418791","display_name":"Drug discovery","level":2,"score":0.41316381096839905},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3720347285270691},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3676183223724365},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2783498764038086},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.25586044788360596},{"id":"https://openalex.org/C98274493","wikidata":"https://www.wikidata.org/wiki/Q128406","display_name":"Pharmacology","level":1,"score":0.24041426181793213},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.2053634226322174},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1521211564540863},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0},{"id":"https://openalex.org/C18903297","wikidata":"https://www.wikidata.org/wiki/Q7150","display_name":"Ecology","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.0},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073537","descriptor_name":"Biological Variation, Population","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010597","descriptor_name":"Pharmacogenetics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016896","descriptor_name":"Treatment Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D055808","descriptor_name":"Drug Discovery","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058492","descriptor_name":"Drug Repositioning","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058990","descriptor_name":"Molecular Targeted Therapy","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D064420","descriptor_name":"Drug-Related Side Effects and Adverse Reactions","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1111/cts.12522","doi":"https://doi.org/10.1111/cts.12522","is_oa":true,"landing_page_url":"https://doi.org/10.1111/cts.12522","pdf_url":"https://ascpt.onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cts.12522","source":{"id":"https://openalex.org/S106654227","display_name":"Clinical and Translational Science","issn_l":"1752-8054","issn":["1752-8054","1752-8062"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical and Translational Science","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:5866959","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5866959","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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clin Transl Sci","raw_type":"Text"},{"id":"pmid:29148204","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29148204","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":"Clinical and translational science","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1111/cts.12522","doi":"https://doi.org/10.1111/cts.12522","is_oa":true,"landing_page_url":"https://doi.org/10.1111/cts.12522","pdf_url":"https://ascpt.onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cts.12522","source":{"id":"https://openalex.org/S106654227","display_name":"Clinical and Translational Science","issn_l":"1752-8054","issn":["1752-8054","1752-8062"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-2","ki-jl-1","medline","norway-1","oarl","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical and Translational Science","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1966362897","display_name":"The Vanderbilt Institute for Clinical and Translational Research (VICTR)","funder_award_id":"KL2TR000446","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G2448904081","display_name":"National Infrastructure for Standardized and Portable EHR Phenotyping Algorithms","funder_award_id":"R01GM105688","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G3355698053","display_name":"Improving Prediction of Drug Action","funder_award_id":"P50GM115305","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G4481548533","display_name":null,"funder_award_id":"GM115305","funder_id":"https://openalex.org/F4320337472","funder_display_name":"National Center for Advancing Translational Sciences"},{"id":"https://openalex.org/G6414314193","display_name":"VGER, the Vanderbilt Genome-Electronic Records Project","funder_award_id":"U01HG008672","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G6599918684","display_name":"Beyond PheWAS: Recognition of Phenotype Patterns for Discovery and Translation","funder_award_id":"R01LM010685","funder_id":"https://openalex.org/F4320337372","funder_display_name":"U.S. National Library of Medicine"},{"id":"https://openalex.org/G7421400739","display_name":"Essential Autolysin Activity in Gram-positive Bacteria","funder_award_id":"R01GM106085","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G9000018720","display_name":null,"funder_award_id":"GM115305","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000025860","display_name":null,"funder_award_id":"TR000446","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000872578","display_name":"Vanderbilt Institute for Clinical and Translational Research (VICTR)","funder_award_id":"UL1TR002243","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000882790","display_name":"Vanderbilt Biomedical Informatics Training Program","funder_award_id":"T15LM007450","funder_id":"https://openalex.org/F4320337372","funder_display_name":"U.S. National Library of Medicine"}],"funders":[{"id":"https://openalex.org/F4320306134","display_name":"Doris Duke Charitable Foundation","ror":"https://ror.org/04n65rp89"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337372","display_name":"U.S. National Library of Medicine","ror":"https://ror.org/0060t0j89"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2769008348.pdf","grobid_xml":"https://content.openalex.org/works/W2769008348.grobid-xml"},"referenced_works_count":102,"referenced_works":["https://openalex.org/W187840612","https://openalex.org/W607170239","https://openalex.org/W906479600","https://openalex.org/W1572528121","https://openalex.org/W1604547439","https://openalex.org/W1895993106","https://openalex.org/W1930228151","https://openalex.org/W1936043210","https://openalex.org/W1966646192","https://openalex.org/W1968779484","https://openalex.org/W1969208427","https://openalex.org/W1974660612","https://openalex.org/W1974858693","https://openalex.org/W1975212224","https://openalex.org/W1979862336","https://openalex.org/W1982945330","https://openalex.org/W1985059672","https://openalex.org/W1988892314","https://openalex.org/W1989590412","https://openalex.org/W1989730880","https://openalex.org/W1991636536","https://openalex.org/W2003268732","https://openalex.org/W2004655580","https://openalex.org/W2012486622","https://openalex.org/W2016935074","https://openalex.org/W2019760453","https://openalex.org/W2019855029","https://openalex.org/W2022687771","https://openalex.org/W2026614040","https://openalex.org/W2028279608","https://openalex.org/W2031374844","https://openalex.org/W2034633980","https://openalex.org/W2036145773","https://openalex.org/W2037171637","https://openalex.org/W2038118250","https://openalex.org/W2040612932","https://openalex.org/W2043674997","https://openalex.org/W2049902892","https://openalex.org/W2051105453","https://openalex.org/W2055128986","https://openalex.org/W2063285149","https://openalex.org/W2064994526","https://openalex.org/W2065766094","https://openalex.org/W2067539811","https://openalex.org/W2076999585","https://openalex.org/W2086414517","https://openalex.org/W2087546077","https://openalex.org/W2090663229","https://openalex.org/W2102889851","https://openalex.org/W2104689123","https://openalex.org/W2113105800","https://openalex.org/W2113784410","https://openalex.org/W2117281960","https://openalex.org/W2117446594","https://openalex.org/W2118822739","https://openalex.org/W2123914630","https://openalex.org/W2124473941","https://openalex.org/W2128030263","https://openalex.org/W2129271730","https://openalex.org/W2133594846","https://openalex.org/W2135147724","https://openalex.org/W2135575592","https://openalex.org/W2140055542","https://openalex.org/W2140079333","https://openalex.org/W2141322774","https://openalex.org/W2143282831","https://openalex.org/W2143625465","https://openalex.org/W2151068025","https://openalex.org/W2152757679","https://openalex.org/W2154940301","https://openalex.org/W2158051256","https://openalex.org/W2159670968","https://openalex.org/W2159858918","https://openalex.org/W2162336177","https://openalex.org/W2162897961","https://openalex.org/W2163961396","https://openalex.org/W2166610199","https://openalex.org/W2169555151","https://openalex.org/W2171825063","https://openalex.org/W2209106767","https://openalex.org/W2227148039","https://openalex.org/W2274048411","https://openalex.org/W2290189795","https://openalex.org/W2407612039","https://openalex.org/W2429361911","https://openalex.org/W2432355112","https://openalex.org/W2518305964","https://openalex.org/W2531587846","https://openalex.org/W2548785523","https://openalex.org/W2551682144","https://openalex.org/W2566636187","https://openalex.org/W2567280222","https://openalex.org/W2584469054","https://openalex.org/W2589289356","https://openalex.org/W2606539913","https://openalex.org/W2607130335","https://openalex.org/W2617871421","https://openalex.org/W2625687193","https://openalex.org/W2672043438","https://openalex.org/W2728065598","https://openalex.org/W2801591490","https://openalex.org/W7043587937"],"related_works":["https://openalex.org/W2142550298","https://openalex.org/W4401199549","https://openalex.org/W3175823386","https://openalex.org/W3164352757","https://openalex.org/W7204250009","https://openalex.org/W2521100622","https://openalex.org/W2110513645","https://openalex.org/W2141352413","https://openalex.org/W2055451061","https://openalex.org/W7098776521"],"abstract_inverted_index":{"Genome-wide":[0],"association":[1,6,322,608,921,1088,1843,2347,2419,2721,2748,2764,2867,2934,2957,3067,3104,3191,4267],"studies":[2,7,1133,1434,1487,1511,1790,1844,1911,2040,2177,2317,2888,2950,2988,3171,3831],"(GWAS)":[3],"and":[4,24,35,46,52,84,112,201,224,247,266,278,300,370,376,381,415,584,615,792,802,897,901,933,1020,1031,1075,1108,1114,1127,1131,1220,1264,1361,1380,1449,1480,1485,1545,1617,1622,1730,1756,1770,1787,1823,1847,1861,1900,1918,1929,1965,1984,2007,2019,2033,2053,2063,2136,2166,2187,2239,2255,2308,2429,2478,2505,2526,2534,2560,2579,2606,2626,2683,2805,2856,2902,2942,2981,3053,3261,3306,3381,3409,3485,3571,3663,3667,3715,3720,3771,3889,3945,3957,3968,4111,4250,4282,4335,4341],"phenome-wide":[5],"(PheWAS)":[8],"have":[9,25,338,379,564,776,984,1042,1159,1342,1470,1512,1547,1777,1791,1958,2024,2041,2199,2569,2992,3446,3832,4034],"provided":[10,503,575,602],"powerful":[11],"methods":[12,1054,2886,3460,3676,4122,4211],"for":[13,251,284,297,321,364,373,389,398,524,605,728,735,778,810,958,1003,1027,1033,1061,1140,1261,1335,1364,1376,1460,1465,1483,1539,1613,1636,1668,1699,1721,1749,1925,2055,2075,2192,2362,2460,2485,2861,3044,3241,3363,3419,3480,3482,3510,3519,3566,3592,3650,3697,3712,3759,3839,3846,3884,3912,3934,3964,3979,4006,4049,4072,4105,4113,4232],"investigating":[14],"the":[15,30,78,98,105,125,147,184,210,258,272,285,316,331,335,360,394,453,463,474,529,572,577,607,640,676,699,709,715,745,771,798,804,808,823,828,859,875,912,923,934,976,1023,1039,1112,1135,1148,1154,1168,1203,1273,1287,1323,1329,1343,1393,1405,1417,1426,1436,1457,1502,1556,1572,1589,1628,1665,1674,1688,1694,1760,1837,1876,1914,1941,1962,1973,2013,2058,2073,2133,2157,2183,2190,2207,2235,2242,2268,2280,2309,2337,2344,2349,2365,2390,2415,2434,2446,2456,2492,2517,2548,2597,2696,2702,2820,2824,2852,2878,2897,2961,3027,3064,3093,3125,3132,3147,3166,3176,3190,3203,3283,3295,3318,3361,3417,3433,3448,3453,3508,3550,3555,3581,3587,3601,3612,3632,3652,3690,3706,3729,3744,3757,3760,3766,3781,3791,3834,3841,3847,3856,3862,3872,3885,3897,3902,3914,3987,3996,4047,4060,4064,4069,4094,4103,4128,4138,4155,4200,4217,4223,4233,4241,4299,4310,4322,4346,4349],"impact":[16,1780],"of":[17,32,62,81,92,107,127,146,152,186,197,212,241,257,274,287,326,345,347,357,368,413,430,441,466,473,477,484,537,594,609,621,624,632,642,678,717,773,818,838,850,874,920,945,960,966,991,1010,1029,1035,1055,1089,1103,1111,1137,1151,1215,1258,1318,1371,1389,1422,1438,1559,1588,1591,1596,1615,1631,1638,1658,1690,1716,1738,1762,1798,1803,1827,1858,1865,1916,1921,1981,1990,2012,2016,2093,2098,2132,2150,2159,2185,2211,2217,2225,2251,2318,2351,2364,2393,2405,2410,2436,2443,2449,2458,2462,2503,2524,2531,2553,2581,2586,2600,2623,2704,2726,2749,2765,2769,2788,2791,2822,2826,2868,2880,2900,3018,3050,3074,3105,3128,3136,3146,3155,3162,3192,3208,3223,3226,3320,3407,3435,3437,3455,3474,3521,3540,3552,3557,3603,3608,3627,3692,3773,3793,3809,3836,3843,3849,3855,3874,3887,3899,3916,3960,3989,3998,4162,4186,4195,4226,4235,4268,4301,4315,4324,4348],"genetic":[18,225,259,282,475,596,610,625,724,1319,1458,1515,1666,1706,1878,2014,2046,2065,2094,2121,2137,2209,2346,2447,2513,2554,2598,2827,3032,3066,3193,3218,3249,3783],"variation":[19,265,611,1499,1516,2095,2959,3194,3213,3250,3281],"on":[20,439,1171,1183,1366,1781,2321,2353,2483,2685,3351],"individual":[21,86,1072,2068,3804],"drug":[22,33,43,110,187,199,242,263,498,532,961,1178,1194,1207,1218,1367,1378,1384,1412,1697,1757,1763,1938,1948,1985,1999,2017,2028,2051,2099,2452,2542,2604,2624,2628,2649,2665,2849,2921,3019,3301,3334,3428,3467,3515,3633,3653,3661,3678,3687,3696,3716,3761,3810,3821,3827,3925,3950,3994,4007,4050,4114],"response":[23,245,264,499,533,616,1997,2018,2052,2069,2368,2477,2497,2520,2543,3305,3664],"added":[26],"extensive":[27],"knowledge":[28,106,593,1983],"to":[29,54,150,178,203,292,301,311,352,396,507,521,617,639,682,697,711,780,800,812,857,975,996,1045,1118,1224,1268,1275,1302,1322,1345,1398,1416,1441,1446,1473,1552,1576,1627,1645,1678,1752,1776,1907,1913,1935,1945,1998,2023,2026,2050,2090,2110,2124,2180,2194,2205,2234,2279,2294,2300,2439,2469,2474,2547,2576,2594,2619,2647,2663,2701,2811,2819,2839,2858,2873,2895,2954,3002,3014,3117,3165,3174,3258,3274,3297,3327,3336,3421,3451,3461,3466,3512,3623,3639,3659,3672,3790,3814,3867,3896,3920,3986,3991,4000,4028,4036,4059,4093,4116,4118,4126,4130,4191,4199,4213,4221],"understanding":[31,85,240,472,2011],"targets":[34,181,296,1413,1538,1698,3479,3736,3808,3959],"effects.":[36,1143,1368],"We":[37],"highlight":[38,1134],"here":[39],"recent":[40,420,1564,1769,3183,3247],"advances":[41,103,1766],"in":[42,88,104,120,139,168,183,290,592,598,661,663,684,744,833,969,1051,1121,1306,1414,1463,1488,1500,1517,1528,1532,1550,1650,1673,1692,1836,1845,1994,2044,2105,2115,2143,2215,2223,2232,2263,2267,2282,2332,2367,2370,2382,2418,2426,2451,2455,2481,2488,2501,2519,2541,2551,2612,2638,2670,2674,2681,2698,2706,2760,2829,2887,2892,2918,2935,2960,3047,3072,3108,3142,3151,3234,3316,3497,3545,3549,3568,3580,3600,3631,3755,3859,3901,3906,3981,4057,4063,4074,4109,4137,4183,4207,4216,4240,4272,4276,4288,4303,4321,4339],"development,":[44,1764],"repurposing,":[45,3684],"personalization":[47],"accelerated":[48],"by":[49,97,576,630,1022,1125,1166,1401,1430,1602,2247,2397,2643,2843,2847,2877,2946,3095,3185,3411,3739,3748,3769,4042,4052,4141,4150,4345],"applying":[50],"GWAS":[51,277,306,437,468,501,563,573,791,820,825,886,1263,1372,1394,1406,1431,1440,1453,1486,1551,1565,1603,1657,1691,1751,1765,1928,1957,2081,2154,2198,2222,2331,2444,2530,2615,2644,2717,2787,2830,2901,2987,3090,3221,3279,3666,3730,3749,3816,3858,3990,4340],"PheWAS":[53,279,652,657,679,692,779,793,811,829,881,977,983,1062,1069,1138,1162,1234,1930,1966,3292,3420,3439,3459,3602,3622,3668,3999,4013,4065,4110,4210,4260,4316,4342],"longitudinal":[55,230,943,1324],"health":[56,232],"data":[57,288,629,1173,1222,1239,1320,1326,1348],"information,":[58],"along":[59,2112,2566,3397],"with":[60,144,323,433,443,500,516,544,554,612,627,635,647,686,704,708,721,797,846,891,927,949,1048,1096,1105,1238,1280,1349,1411,1425,1498,1521,1555,1571,1579,1598,1652,1671,1681,1708,1833,1855,2096,2161,2189,2271,2348,2389,2420,2495,2567,2645,2667,2728,2736,2751,2755,2775,2795,2798,2870,2906,2968,3035,3068,3110,3160,3195,3211,3230,3238,3244,3277,3300,3324,3330,3344,3365,3378,3388,3398,3403,3427,3441,3523,3642,3735,3743,3765,3780,3795,3871,3909,4154,4179,4197,4246,4274,4298,4309],"limitations":[61,2899],"these":[63,508,2201,2204,3948,4295,4320],"methods.":[64],"The":[65,90,195,387,589,619,655,726,939,999,1256,1801,2119,2632,2677,2911],"challenges":[66],"facing":[67],"modern":[68,281],"clinical":[69,142,1049,1175,1187,1242,1303,2135,2430,2613,3331,3366,3723,3907,4156,4325],"pharmacology":[70],"can":[71,235,269,513,1163,1235,1795,1992,2087,2140,2432,3011,3646,3669,4014,4023,4101],"be":[72,491,522,1119,1164,1236,1291,1553,1577,1679,2088,2111,2141,2206,2277,2301,2832,2874,3275,3513,3655,3670,3868,3977,4124],"grouped":[73,3341],"into":[74,122,3347],"two":[75,1897,2379],"major":[76,102,464],"categories:":[77],"efficient":[79,1333],"development":[80,91,641,1797,1802,1920,2703,3634],"novel":[82,93,298,789,867,1383,1735,1799,1923,1937,2380,2885,3674,3993,4085],"therapeutics":[83,94,299,3629,3641],"variability":[87,1991,2138,2366,2450,2540],"response.":[89],"is":[95,157,215,307,469,731,742,749,760,973,1223,1272,1409,1519,1949,1967,2021,2070,2107,2297,2305,2312,2454,2498,2544,2655,3092,3140,3202,3272,3689,3733,3762,4244,4251,4343],"hampered":[96],"problem":[99,196],"that":[100,159,218,261,489,531,763,836,853,1161,1233,1296,1313,1444,1491,1504,1514,1568,1714,1793,1819,1850,1884,1982,2048,2086,2139,2231,2324,2336,2386,2414,2539,2692,2718,2994,3123,3214,3288,3371,3392,3492,3538,3576,3741,3806,3812,3877,3937,3955,4017,4025,4081,4100,4134,4160,4294],"despite":[101],"disease":[108,161,552,613,1447,1582,1754,1830,2577,3768,4031,4070],"mechanisms,":[109],"targets,":[111,3798],"biomarkers,":[113],"as":[114,116,175,752,915,997,1080,1266,1300,1726,1933,2172,2395,2401,2403,2557,3006,3030,3082,3255,3290,3430,3432,3718,3949,3983,4280,4319],"well":[115,733,2253,2402,3083,3431],"a":[117,176,237,308,324,470,482,538,545,549,643,694,705,722,739,815,878,918,942,1068,1086,1122,1180,1245,1253,1466,1599,1606,1624,1655,1704,1778,1862,1922,1995,2083,2113,2116,2144,2162,2248,2306,2383,2573,2656,2716,2746,2771,2865,2907,2932,2936,2979,3015,3031,3036,3048,3078,3101,3216,3268,3278,3321,3356,3514,3569,3606,3815,4019,4090,4106,4269,4289,4304],"continual":[118],"rise":[119,683],"investment":[121],"pharmaceutical":[123],"research,":[124],"number":[126],"new":[128,906,2257,3698],"drugs":[129,137,1461,1597,1720,2057,2160,3740,3794,3932,3963,4026,4073,4196],"approved":[130,1719,1947,3923,3962],"each":[131],"year":[132],"has":[133,172,206,401,427,502,601,637,680,1230,1641,2155,2228,2471,2616,2640,2914,2973,3251,3294,3894],"remained":[134],"steady.1":[135],"Most":[136],"fail":[138],"phase":[140,3721],"II":[141,1093,2731,2779,2806],"trials,":[143,1243],"50%":[145],"failures":[148],"due":[149,2278,2546,2700],"lack":[151,4300],"efficacy.2,":[153],"3":[154],"Thus,":[155,462,3169],"there":[156,3751,4264],"concern":[158],"preclinical":[160,3719],"models":[162],"do":[163,1200],"not":[164,481,781,1083,1147,1191,1310,1536,3530,3543,3559,3763],"reliably":[165],"predict":[166,2475,3462],"efficacy":[167,200,1195,2032,2104,2126,2453,3980,4035,4225,4302],"patients.":[169,2708],"Human":[170,579],"genetics":[171,645,1794],"been":[173,207,402,1043,1231,1471,1548,1643,2156,2472,2617,2641,2916,2975,3253,3882],"proposed":[174,3947],"mechanism":[177,1379,1600,1670,2020,3662],"prioritize":[179],"molecular":[180,4202],"early":[182,341,1745,3089,3630],"stages":[185,3635],"discovery":[188],"towards":[189,2572],"potentially":[190,252,702,866,3425,3562],"more":[191,238,423,1246,2499],"efficacious":[192,2168],"models.4,":[193],"5":[194,405,3158],"variable":[198,2167],"susceptibility":[202,2646,2669,2810,3257],"side":[204,254,2005,2034,3206,3307],"effects":[205,873,2097,2536,2879,3457,3626,4003,4181],"recognized":[208],"since":[209,510,2974],"advent":[211],"therapeutics.":[213,1800],"There":[214,1894,4096],"now":[216,1773,1896],"evidence":[217],"medication":[219,275,950,1350],"exposure":[220,1219,3326,3335,3346,3400],"data,":[221,223,1356,3390],"outcome":[222,465,1221],"information":[226,626,947,1205],"linked":[227,1321],"together":[228],"via":[229],"electronic":[231],"records":[233],"(EHRs)":[234],"provide":[236,302,1202],"thorough":[239],"effects,":[243,1179,2006,2054,3302],"including":[244,355,422,848,888,917,1209,2001,2603,2923,3303],"patterns":[246],"individuals":[248,1651,2216,2224,2334,2482,2502,2585,3073,3343,3599],"at":[249,404,1251,2978,3282],"risk":[250,1448,1728,3033,3240,3289,3873,3943,3972],"rare":[253,2657,2904],"effects.6":[255,962],"Knowledge":[256],"mechanisms":[260,1755],"drive":[262,1796],"adverse":[267,1197,2004,2627,2648,2660,2920,3338,3423,3464,3487,3547,3564,3614],"events":[268,1583,2320,3424,3465,3548,3565],"help":[270,4329],"guide":[271,4330],"tailoring":[273],"therapy.":[276,305,3468],"are":[280,456,766,795,1007,1018,1059,1146,1297,1396,1496,1604,1767,1771,1895,2082,2129,2592,3172,3725,3752,3778,3807,4097,4135,4188],"tools":[283],"exploration":[286],"sets":[289],"order":[291],"efficiently":[293],"identify":[294,712,788,1442,1936,3337,3422,3531,3647,3673,3992,4001,4015],"potential":[295,556,1213,1344,1375,1734,1779,2025,2064,2074,2621,3217,3296,3449,3463,3477,3486,3613,3644,3826,4048,4084,4224],"evidence-based":[303],"individualized":[304],"hypothesis-generating":[309,4040],"method":[310,830,862,1070,1214,1334,2085],"systematically":[312],"analyze":[313,698],"variants":[314,446,488,597,1527,1570,2047,2122,2269,2327,2381,2611,2905,3496,4239],"across":[315,384,756,2274,2562,2590,2989],"entire":[317,1418],"genome":[318],"(i.e.,":[319],"\"genome-wide\")":[320],"phenotype":[325,1056],"interest":[327],"(Figure":[328,653,2101,2630,3310,3680,4009],"1a).":[329],"Over":[330],"past":[332],"10":[333,1873,1952],"years,":[334,3159],"genotyping":[336],"assays":[337],"evolved":[339],"from":[340,988,1153,1943,1956,2584,2695,2999,3056,3360],"versions":[342],"assessing":[343],"hundreds":[344],"thousands":[346],"single":[348,723,2358,3102],"nucleotide":[349],"polymorphisms":[350,1672],"(SNPs)":[351],"current":[353,688,1695,4054],"panels":[354],"millions":[356],"SNPs.7":[358],"At":[359,3876],"same":[361,3065,3782],"time,":[362,3878],"pipelines":[363],"quality":[365],"control,":[366],"imputation":[367],"genotypes,":[369],"statistical":[371,729,3535,3619],"analysis":[372],"dichotomous,":[374],"categorical,":[375],"continuous":[377],"traits":[378,3332],"matured":[380],"become":[382],"standardized":[383],"high-quality":[385],"laboratories.":[386],"threshold":[388,727],"statistically":[390,434],"significant":[391,435,603,1120,2134,3138],"results,":[392,1353],"given":[393,762],"need":[395],"correct":[397],"multiple":[399,718,1097,3776],"comparisons,":[400],"established":[403,734],"\u00d7":[406],"10\u22128.":[407],"Despite":[408,769],"this":[409,622,748,1217,1812,2256,2264,2357,2371,2512,2710,2815,2841,3137,3179,3593,3837,4148],"stringent":[410],"threshold,":[411],"use":[412,677,772,1225,1464,2457,2725,2768,3319,3842,3988],"larger":[414,416],"cohorts":[417,421,775,1305],"(including":[418],"some":[419,1737,2707,2893],"than":[424,548,2508,2851,3819],"700,000":[425],"individuals)":[426],"enabled":[428],"identification":[429,3454],"many":[431,467,555,700,764,883,982,1421,2056,2664],"SNPs":[432,889,2807,3233,3944],"P-values.8":[436],"focuses":[438],"detection":[440],"associations":[442,570,720,821,843,852,908,1102,2066,2092,2184,2622,3299,3329,3387,3473,3520,3533,3558,3789,4062],"relatively":[444,1281,1768],"common":[445,595,2339,2425,2500,2776,2853,3205,4020,4253],"(e.g.,":[447],"minor":[448],"allele":[449,2284,3029,3134,3149],"frequencies":[450],"1\u20135%)":[451],"so":[452],"odds":[454],"ratios":[455],"often":[457,738,1950,2108],"small":[458,511,1402],"(OR":[459,2965,3041,3084],"<":[460],"1.5).":[461],"better":[471,1046,2010],"architecture":[476,2599],"complex":[478,551,599,3526],"traits,":[479,2602],"but":[480,786,1099,1248,1535,2658,4077],"set":[483,965,1408,3732],"high":[485,3373,3394],"effect":[486,519,1558,2035,2273,2350,2392,2438,2661,2909,3039,3080,3207,3308],"size":[487,3040,3081,4347],"would":[490],"clinically":[492],"actionable.7":[493],"As":[494,1954,4012],"described":[495,3315,4176],"below,":[496],"examining":[497],"an":[504,535,955,970,1090,1332,1824,1946,2130,2407,2687,2720,2763,2956,3111,3119,3152,3404,3573,3693],"interesting":[505],"counterexample":[506],"generalizations,":[509],"numbers":[512],"yield":[514],"signals":[515],"large":[517,774,1277,2908,3038,3079,3589],"enough":[518],"sizes":[520,1279],"considered":[523,2109],"implementation.":[525],"This":[526,861,2882,3414,3583,3893],"may":[527,1190,1290,1309,2276,2515,2808,2831,3542,3654,4032],"reflect":[528],"idea":[530],"represents":[534,1811,3572],"example":[536,2442,3091],"controlled":[539,1881,4307],"environmental":[540,557],"intervention":[541],"(drug)":[542],"interacting":[543],"genome,":[546,1420],"rather":[547],"multifactorial":[550],"state":[553],"inputs.":[558],"Since":[559,674,1525],"2005,":[560],"over":[561,1951,1961,3157,3597],"3,000":[562],"identified":[565,864,910,1429,1456,1725,2378,2416,2762,3026,3747,3802,3930,4079,4108,4182],"almost":[566,1872],"40,000":[567],"unique":[568],"SNP-trait":[569],"within":[571,822,911,1174,1328,1392,3114,4089],"catalog":[574,826,1395],"National":[578],"Genome":[580],"Research":[581],"Institute":[582,587],"(NHGRI)":[583],"European":[585,2218,2506,2527,3075,3143],"Bioinformatics":[586],"(EBI).7":[588],"rapid":[590],"increase":[591],"diseases":[600,1030,1050,3936,4016,4287],"opportunities":[604,4005,4194],"analyzing":[606],"phenotypes":[614,701,765,967,986,1152,1308],"therapies.":[618,3020],"integration":[620],"wealth":[623],"phenotypic":[628,946],"linkage":[631,1786],"DNA":[633],"biobanks":[634,1341],"EHRs":[636,1260],"led":[638,1912,3895],"reverse":[644],"approach":[646,696,972,1250,2575,4149],"EHR-based":[648,1340],"genomic":[649,1347],"studies,":[650,1271],"termed":[651,3686],"1b).6":[654],"first":[656,1877,2678,3490,3857],"study":[658,959,1124,1707,2158,2679,3094,3184,3322,3415,3567,3584,3594,4041,4192,4331],"was":[659,831,1817,2680,2693,2734,3376,3401,4265],"performed":[660,832,1165,2715,2786],"2010,":[662,2761],"which":[664,759,1307,1423,1739,2733,2972,3099,3756,4187],"Denny":[665,1126],"et":[666,1065,1157,1685,2376,2713,2743,2758,2784,2835,2929,3024,3059,3097,3187,3313,3470,3800,3928,4044,4145,4173,4205],"al.":[667,1066,1158,1686,2377,2714,2744,2785,2836,2930,3025,3060,3188,3314,3471,3801,3929,4045,4146,4174,4206],"successfully":[668],"replicated":[669,845,882,1085,1101,1601],"four":[670],"known":[671,784,819,841,885,1087,2120,2299,3116,3273,3787,3796],"SNP-disease":[672,842,868,907],"associations.9":[673],"then,":[675,1526],"continued":[681],"popularity,":[685],"58":[687],"PubMed":[689],"indexed":[690],"publications.":[691],"provides":[693,941,1331],"systematic":[695],"associated":[703,890,1497,1520,1554,1578,1680,1832,2270,2388,2494,2642,3237,3377,3402,3426,3767,3779,3870,4245],"specific":[706],"genotype,":[707],"ability":[710,799,1274,2191,3418,3450,3997,4104],"pleiotropy,":[713,3774],"or":[714,1186,1196,1284,1354,2289,3645,4140,4285],"finding":[716,2801,2825,3077,3391],"independent":[719,1587],"association.10":[725],"significance":[730,3561],"less":[732,1282],"PheWAS;":[736],"therefore,":[737],"Bonferroni":[740],"correction":[741],"applied":[743,1775,4212],"analyses.":[746],"However,":[747,1940,3554],"highly":[750,2302],"stringent,":[751],"it":[753,954,1293,1816],"assumes":[754],"independence":[755],"all":[757,2537,4152],"phenotypes,":[758,1362],"unlikely,":[761],"closely":[767],"related.":[768],"this,":[770,981],"allowed":[777],"only":[782,1084,1149,1772,2360],"replicate":[783,801,813],"findings,":[785,2202,2565],"also":[787,863,994,1058,1100,1566,1731,2229,2298,2915,2952,3252,3293,3585,3685,3753,4033,4078,4167],"associations.":[790],"approaches":[794],"complementary,":[796],"validate":[803],"other's":[805],"findings.":[806],"Representing":[807],"capacity":[809],"GWAS,":[814,3248,3770],"comprehensive":[816,1705],"comparison":[817,1415],"NHGRI":[824],"against":[827,1609,3504],"2013,":[834],"showing":[835,2203],"210":[837],"751":[839],"(28%)":[840],"were":[844,854,909,1831,2178,2387,2951,3236],"PheWAS,":[847,1265,4184],"66%":[849],"those":[851,2252],"adequately":[855],"powered":[856],"detect":[858],"association.11":[860],"63":[865],"associations,":[869,887,4087],"again":[870],"demonstrating":[871],"pleiotropic":[872,1142,3456,4002,4180],"variants.":[876],"In":[877,1759,1814,1870,2079,2709,2740,2781,2926,3021,3220,3246,3657,3918,4120],"pediatric":[879,913],"cohort,":[880,3605],"prior":[884,1123,1785],"juvenile":[892],"rheumatoid":[893,1700],"arthritis,":[894],"asthma,":[895],"autism,":[896],"pervasive":[898],"developmental":[899],"disorder,":[900],"type":[902,1660,1807],"1":[903],"diabetes.12":[904],"Several":[905,1369,2985],"population":[914,2385,2939,3323],"well,":[916],"cluster":[919],"near":[922],"NDFIP1":[924],"gene":[925,1407,1503,1676,1789,1842,1910,2039,2077,2176,2316,2738,2949,3731,3797,3866,4243],"(associated":[926],"mental":[928],"retardation),":[929],"PLCL1":[930],"(developmental":[931],"delay),":[932],"IL5-IL13":[935],"region":[936],"(eosinophilic":[937],"esophagitis).12":[938],"EHR":[940,1288,1330,3362],"collection":[944],"coupled":[948],"exposures,":[951],"thus":[952,1357,3946,4328],"making":[953],"important":[956,3088],"platform":[957],"A":[963,1477,1563,1987,2009,2147,2466,3182,4039],"broad":[964],"collected":[968],"unbiased":[971],"essential":[974,1363],"method.13":[978],"To":[979,3506],"accomplish":[980],"used":[985,1002,1237,1472,1612,1644,2179,2618,2953,3270,3671,3933,4027,4209],"derived":[987],"custom":[989],"groupings":[990,1005,1041],"billing":[992,1000,1184],"codes,":[993],"referred":[995],"phecodes.9":[998],"codes":[1001,1017,1074,1145,1185,4215],"phecode":[1004,1040],"currently":[1006,1718,3922,4189],"International":[1008],"Classification":[1009],"Diseases,":[1011],"Ninth":[1012],"Revision":[1013],"(ICD-9)":[1014],"codes.":[1015],"ICD":[1016],"published":[1019,1390],"maintained":[1021],"World":[1024],"Health":[1025],"Organization":[1026],"classification":[1028,1057],"services":[1032],"reimbursement":[1034],"medical":[1036,1315],"services.":[1037],"While":[1038,1286,2037,2174,3131,3728],"shown":[1044,1160,1232,1513,1792,2042,2473,2993],"align":[1047,1424,3742],"practice,":[1052],"other":[1053,1132,1529,2850,2919,3525,3935,4163],"effective":[1060],"studies.14":[1063],"Hebbring":[1064,1156],"reported":[1067,2931,3063],"using":[1071,1439,1750],"ICD-9":[1073,1077],"parent":[1076],"three-digit":[1078],"groups":[1079],"phenotypes.15":[1081],"They":[1082,2412,2863,3340,3369,3489,3528,3953,4067,4292],"HLA":[1091,2671,2729,2777,2802,2912,2962],"class":[1092,2730,2778,2803],"allele,":[1094,2341],"HLA-DRB1,":[1095],"sclerosis,":[1098],"HLA-DRB1":[1104],"erythematous":[1106],"conditions":[1107,1295,1312],"benign":[1109],"neoplasms":[1110],"respiratory":[1113],"intrathoracic":[1115],"organs,":[1116],"found":[1117,1549,1567,1677,1713,1818,2230,2335,2745,2864,3370,3861,3954],"colleagues.9,":[1128],"15":[1129],"These":[1130,1744,2529,2564,3823],"importance":[1136],"techniques":[1139],"identifying":[1141,1381,2045],"Billing":[1144],"source":[1150],"EHR.":[1155],"defining":[1167,1252],"phenome":[1169,1181,1289],"solely":[1170],"textual":[1172,1355],"documentation.16":[1176],"For":[1177],"based":[1182,3350],"text":[1188],"alone":[1189],"accurately":[1192],"capture":[1193,2596],"events,":[1198,4284],"nor":[1199],"they":[1201,1712,3385,3517,3975,4262],"necessary":[1204],"about":[1206],"exposure,":[1208],"dosing":[1210,2169],"data.":[1211],"One":[1212,3087,3854],"obtaining":[1216],"prospective":[1226,1269],"cohort-based":[1227,1270],"studies.":[1228],"It":[1229],"obtained":[1240],"through":[1241,3458,3677],"representing":[1244],"biased,":[1247],"targeted,":[1249],"phenome.17,":[1254],"18":[1255,1715],"benefit":[1257],"leveraging":[1259],"both":[1262,1359,2977],"opposed":[1267,1301],"obtain":[1276],"sample":[1278],"time":[1283,3711,4334],"expense.":[1285],"incomplete,":[1292],"includes":[1294],"medically":[1298],"relevant,":[1299],"trial":[1304,3570,4157,4308],"represent":[1311,3825],"necessitate":[1314],"attention.":[1316],"Biobanking":[1317],"patient":[1325,2117,3648],"available":[1327,3359,4088],"aggregating":[1336],"otherwise":[1337],"disparate":[1338],"information.":[1339],"integrate":[1346],"receipt,":[1351],"laboratory":[1352,3389],"refining":[1358],"exposures":[1360],"research":[1365,2582],"features":[1370],"suggest":[1373,1732,3624],"its":[1374,1669],"elucidating":[1377,2445,3660],"relevant":[1382,4201],"targets.":[1385,1451,1939],"An":[1386],"estimated":[1387],"21%":[1388],"genes":[1391,1530,1724,3805,3940,4056,4178],"amenable":[1397],"pharmacological":[1399],"modulation":[1400],"molecules.19":[1403],"Further,":[1404,1509],"enriched":[1410,3734],"human":[1419,2601,2633],"disease\u2013gene":[1427,3745],"pair":[1428,3746],"analysis.19":[1432],"Prior":[1433,3830],"support":[1435],"role":[1437,1689],"alleles":[1443],"contribute":[1445,2049],"druggable":[1450],"Early":[1452],"efforts":[1454,2583],"retrospectively":[1455],"basis":[1459,1667],"already":[1462,3726,3737],"particular":[1467,2106],"indication.":[1468],"Statins":[1469],"inhibit":[1474],"3-hydroxy-3-methylglutaryl":[1475],"coenzyme":[1476],"(HMG-CoA)":[1478],"reductase":[1479],"treat":[1481,4029,4037],"hyperlipidemia":[1482],"decades,20":[1484],"2008":[1489,2682],"showed":[1490],"low-density":[1492],"lipoprotein":[1493],"(LDL)":[1494],"levels":[1495,1649,1857],"HMGCR,":[1501],"encodes":[1505],"HMG-CoA":[1506],"reductase.21,":[1507],"22":[1508],"pharmacogenetics":[1510],"HMGCR":[1518],"statin":[1522,1540,1560,1585,2125],"efficacy.23,":[1523],"24":[1524],"involved":[1531],"lipid":[1533],"metabolism":[1534],"direct":[1537,2689],"action":[1541],"(APOE,":[1542],"LPA,":[1543],"SORT1/CELSR2/PSRC1,":[1544],"SLCO1B1)":[1546],"LDL-lowering":[1557],"therapy.25,":[1561],"26":[1562,2146],"several":[1569,1733,2489,2675,3931,4098],"LPA":[1573],"locus":[1574,2244,2913],"appear":[1575],"coronary":[1580,1828,1866,4283],"heart":[1581,1829,1867],"during":[1584,2724],"therapy,":[1586,2000,3210],"extent":[1590],"LDL-cholesterol":[1592],"lowering.27":[1593],"Other":[1594],"examples":[1595,3772],"ustekinumab,":[1605],"monoclonal":[1607,1625,1886],"antibody":[1608,1626],"interleukin":[1610],"(IL)-12":[1611],"treatment":[1614,1637,2029,2100,2461,2476,2578,2754,2794,3551,3675,3848,3886,4234],"psoriasis":[1616],"inflammatory":[1618],"bowel":[1619],"disease,28,":[1620],"29":[1621],"denosumab,":[1623],"receptor":[1629],"activator":[1630],"nuclear":[1632],"factor-kappaB":[1633],"ligand":[1634],"(RANKL)":[1635],"osteoporosis.30":[1639],"Metformin":[1640],"long":[1642],"lower":[1646,1863],"blood":[1647],"glucose":[1648],"diabetes;":[1653],"however,":[1654,2356],"2011":[1656],"3,920":[1659],"2":[1661,3500],"diabetes":[1662,3379],"patients":[1663,2523,3364],"clarified":[1664],"ATM":[1675],"glycemic":[1682],"control.31":[1683],"Okada":[1684,3927],"evaluated":[1687,3189,4046],"validating":[1693,3921],"therapeutic":[1696,2164,3304,3695],"arthritis":[1701],"(RA).32":[1702],"Through":[1703,4258],"nearly":[1709],"100,000":[1710],"subjects,":[1711],"27":[1717],"RA":[1722,1727,3924,3942,3971,3982],"target":[1723,1782,1915,1944,3640,3938],"loci,":[1729],"therapeutics,":[1736,3481],"had":[1740,2343,3610,3881],"supporting":[1741],"animal":[1742],"studies.32":[1743],"successes":[1746],"fuel":[1747],"enthusiasm":[1748],"elucidate":[1753],"targets.19":[1758],"context":[1761],"being":[1774],"discovery.":[1783],"Nevertheless,":[1784],"candidate":[1788,1841,1909,2038,2175,2737,4131],"proprotein":[1804],"convertase":[1805],"subtilisin/kexin":[1806],"9":[1808],"(PCSK9)":[1809],"inhibitors":[1810,3845,3880,4231],"realization.":[1813],"2003,":[1815],"autosomal":[1820],"dominant":[1821],"hypercholesterolemia":[1822],"increased":[1825,1960,2328,2570,2668,3239,3405],"incidence":[1826,1864,3154,3406],"gain-of-function":[1834],"mutations":[1835,1853],"PCSK9":[1838,1851,1904,1917],"gene.33":[1839],"Subsequent":[1840,2221,2330],"2005":[1846,3860],"2006":[1848,2699],"revealed":[1849],"loss-of-function":[1852,2326,2340,4270],"correlate":[1854,4297],"reduced":[1856,3262,4247],"LDL":[1859,1890],"cholesterol":[1860,1891],"disease.34,":[1868],"35":[1869],"2012,":[1871],"years":[1874,3709],"after":[1875,2767,2793,2814,3062,3333],"discovery,":[1879],"randomized":[1880,4306],"trials":[1882,3724,3908,4326],"demonstrated":[1883,3491,3833],"PCSK9-specific":[1885],"antibodies":[1887],"significantly":[1888,3703,4168],"reduce":[1889],"levels.36,":[1892],"37":[1893],"US":[1898],"Food":[1899],"Drug":[1901,2103,3683,3700],"Administration":[1902],"(FDA)-approved":[1903],"inhibitors.":[1905],"Similar":[1906],"how":[1908,2884],"subsequent":[1919,2197,2986],"therapy":[1924,2296],"familial":[1926],"hypercholesterolemia,":[1927],"hold":[1931],"promise":[1932],"means":[1934],"timeline":[1942],"years.":[1953],"findings":[1955,3911,4296],"exponentially":[1959],"last":[1963],"decade":[1964,1975],"gaining":[1968],"similar":[1969],"recognition,":[1970],"we":[1971],"anticipate":[1972],"next":[1974],"will":[1976,2889],"show":[1977,3578],"progress":[1978],"toward":[1979,2030,3618],"utilization":[1980],"development.":[1986],"considerable":[1988],"amount":[1989],"exist":[1993],"patient's":[1996],"differing":[2002],"efficacy,":[2003],"toxicity.":[2008],"determinants":[2015],"thought":[2022],"individualize":[2027],"improved":[2031,2496],"profiles.38":[2036],"success":[2043,3579,3835],"biological":[2059,3442,3939],"mechanism,":[2060],"metabolic":[2061],"pathways,":[2062],"impacting":[2067],"unknown,":[2071],"limiting":[2072],"focused":[2076,2684],"analysis.":[2078],"contrast,":[2080],"hypothesis-free":[2084],"utilized":[2089],"determine":[2091,2620,2859,3328,3507],"2a).":[2102,2631],"continuum":[2114],"population.":[2118,4291],"contributing":[2123],"discussed":[2127],"above":[2128],"indication":[2131,3758],"seen":[2142,2369],"population.25,":[2145],"high-yield":[2148],"area":[2149],"pharmacogenetic":[2151],"investigation":[2152],"utilizing":[2153],"narrow":[2163,4127],"window":[2165],"regimens,":[2170],"such":[2171,2556,2610,3005,4279,4318],"warfarin.":[2173],"initially":[2181],"describe":[2182],"CYP2C9":[2186],"VKORC1":[2188,2240],"warfarin":[2193,2212,2272],"achieve":[2195],"anticoagulation,39-42":[2196],"confirmed":[2200,2735],"strongest":[2208,2345],"predictors":[2210],"dose":[2213,2261],"required":[2214],"descent.43,":[2219],"44":[2220],"African":[2226,2509,2525],"ancestry":[2227,2507,2510],"addition":[2233,3658,3919],"well-known":[2236],"CYP2C9*2,":[2237],"CYP2C9*3,":[2238],"polymorphisms,":[2241],"CYP2C":[2243],"exerts":[2245],"influence":[2246,4102],"variant":[2249,2258,2359,2424,3133,3148,3167,4271],"outside":[2250],"established,":[2254],"could":[2259,3286,3577,3636,3702,4166,4327],"improve":[2260,2433,4169],"prediction":[2262],"population.45":[2265],"Differences":[2266],"populations":[2275,2991,3590,3649],"differences":[2281],"mean":[2283],"frequencies,":[2285],"ancestry-specific":[2286],"gene\u2013gene":[2287],"interactions,":[2288],"population-specific":[2290],"gene\u2013environment":[2291],"interactions.":[2292],"Response":[2293],"clopidogrel":[2295,2322,2352,2437],"variable.":[2303],"Clopidogrel":[2304],"prodrug,":[2307],"bioactivation":[2310],"pathway":[2311,3905],"largely":[2313],"CYP2C19-dependent.46":[2314],"Candidate":[2315,2948],"cardiovascular":[2319],"indicated":[2323],"CYP2C19":[2325],"risk.47-49":[2329],"Amish":[2333],"most":[2338,3204,3616],"CYP2C19*2,":[2342,2421],"platelet":[2354,2399],"aggregation;":[2355],"accounts":[2361],"\u223c12%":[2363],"population.50":[2372],"More":[2373],"recently,":[2374],"Zhong":[2375],"Chinese":[2384,2938,4290],"antiplatelet":[2391],"clopidogrel,":[2394,2533],"measured":[2396],"P2Y12-mediated":[2398],"aggregation,":[2400],"formation":[2404],"H4,":[2406],"active":[2408],"metabolite":[2409],"clopidogrel.51":[2411],"estimate":[2413],"variants,":[2417,2555,3476],"CYP2C19*3":[2422],"(a":[2423],"Asian":[2427,2504,4256],"populations),":[2428],"factors,":[2431],"predictability":[2435],"37.7%.":[2440],"Another":[2441],"underpinnings":[2448],"interferon-alpha":[2459,2484,2535],"hepatitis":[2463,2486],"C":[2464,2487],"infection.":[2465],"polymorphism":[2467,2514,3139],"adjacent":[2468],"IL28B":[2470],"viral":[2479],"clearance":[2480],"GWAS.52-54":[2490],"Because":[2491],"genotype":[2493],"populations,":[2511,3144],"explain":[2516],"difference":[2518,2550],"rates":[2521],"between":[2522,2722,2940,2958],"ancestry.52":[2528],"statin,":[2532],"emphasize":[2538],"ancestry-dependent":[2545],"vast":[2549],"distribution":[2552],"CYP2C9,":[2558],"CYPC19,":[2559],"IL28B,":[2561],"populations.":[2563,4257],"others,":[2568],"focus":[2571],"personalized":[2574],"encouragement":[2580],"diverse":[2587],"backgrounds.":[2588],"Studies":[2589],"ancestries":[2591],"needed":[2593,3173,3591],"fully":[2595],"response,":[2605],"ultimately,":[2607],"appropriately":[2608],"implement":[2609],"practice.":[2614],"toxicities":[2625],"reactions":[2629,3004],"leukocyte":[2634],"antigen":[2635],"(HLA)":[2636],"variation,":[2637],"particular,":[2639,4121],"reactions.":[2650],"Drug-induced":[2651],"liver":[2652,2812],"injury":[2653,2813],"(DILI)":[2654],"serious":[2659,3546],"secondary":[2662,3013],"therapies,":[2666,3926],"regions":[2672],"implicated":[2673,2917,3254],"studies.55-57":[2676],"ximelagatran,":[2686],"oral":[2688],"thrombin":[2690],"inhibitor":[2691,3198,4312],"removed":[2694],"market":[2697],"transaminitis":[2705],"study,":[2711],"Kindmark":[2712],"suggested":[2719],"DILI":[2723,2752,2792,2845],"ximelagatran":[2727],"alleles,":[2732],"studies.58":[2739],"2009,":[2741],"Daly":[2742],"strong":[2747,2866,2933,3103],"HLA-B*5701":[2750,2964],"following":[2753],"flucloxacillin.55":[2756],"Singer":[2757],"al.,":[2759,3098],"hepatotoxicity":[2766],"lumiracoxib,":[2770],"selective":[2772],"cyclooxygenase-2":[2773],"inhibitor,":[2774],"haplotypes.56":[2780],"2011,":[2782,3022],"Lucena":[2783],"201":[2789],"cases":[2790,2894,3052,3163,3225],"amoxicillin-clavulanate":[2796],"compared":[2797,3229],"532":[2799],"controls,":[2800,3232],"I":[2804,3722],"confer":[2809],"antibiotic":[2816],"treatment.57":[2817],"Due":[2818],"rarity":[2821],"DILI,":[2823,2871],"predispositions":[2828],"limited.":[2833],"Nicoletti":[2834],"recently":[2837],"attempted":[2838],"overcome":[2840,2896]},"counts_by_year":[{"year":2026,"cited_by_count":4},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":5},{"year":2016,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2017-12-04T00:00:00"}