{"doi":"10.1371/journal.pgen.1009593","title":"High-throughput framework for genetic analyses of adverse drug reactions using electronic health records","abstract":"Understanding the contribution of genetic variation to drug response can improve the delivery of precision medicine. However, genome-wide association studies (GWAS) for drug response are uncommon and are often hindered by small sample sizes. We present a high-throughput framework to efficiently identify eligible patients for genetic studies of adverse drug reactions (ADRs) using \"drug allergy\" labels from electronic health records (EHRs). As a proof-of-concept, we conducted GWAS for ADRs to 14 common drug/drug groups with 81,739 individuals from Vanderbilt University Medical Center's BioVU DNA Biobank. We identified 7 genetic loci associated with ADRs at P < 5 × 10-8, including known genetic associations such as CYP2D6 and OPRM1 for CYP2D6-metabolized opioid ADR. Additional expression quantitative trait loci and phenome-wide association analyses added evidence to the observed associations. Our high-throughput framework is both scalable and portable, enabling impactful pharmacogenomic research to improve precision medicine.","journal":"PLoS Genetics","year":2021,"id":191944,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":12,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9537,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":227961,"name":"Cosby A. Stone","orcid":"0000-0002-1888-4188","position":1,"is_corresponding":false},{"id":253975,"name":"Lan Jiang","orcid":"0000-0002-2583-3661","position":2,"is_corresponding":false},{"id":406096,"name":"Christian M. Shaffer","orcid":null,"position":3,"is_corresponding":false},{"id":317417,"name":"V. Eric Kerchberger","orcid":"0000-0002-0342-1965","position":4,"is_corresponding":false},{"id":273407,"name":"Cecilia P. Chung","orcid":"0000-0001-5908-9423","position":5,"is_corresponding":false},{"id":58243,"name":"Qiping Feng","orcid":"0000-0002-6213-793X","position":6,"is_corresponding":false},{"id":103608,"name":"Nancy J. Cox","orcid":"0000-0001-9315-0830","position":7,"is_corresponding":false},{"id":367910,"name":"C. Michael Stein","orcid":null,"position":8,"is_corresponding":false},{"id":1110,"name":"Dan M. Roden","orcid":"0000-0002-6302-0389","position":9,"is_corresponding":false},{"id":22022,"name":"Joshua C. Denny","orcid":"0000-0002-3049-7332","position":10,"is_corresponding":false},{"id":106289,"name":"Elizabeth J. Phillips","orcid":"0000-0002-7623-3383","position":11,"is_corresponding":false},{"id":58249,"name":"Wei‐Qi Wei","orcid":null,"position":12,"is_corresponding":false},{"id":347760,"name":"Neil S. Zheng","orcid":"0000-0001-8737-0773","position":0,"is_corresponding":true}],"reference_count":41,"raw_metadata":null,"created_at":"2026-07-18T23:49:39.281850Z","pmid":"34061827","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}