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Therapeutic interventions are rapidly advancing for its inflammatory phenotype, nonalcoholic steatohepatitis (NASH) at all stages of disease. Diagnosis codes alone fail to recognize and stratify at\u2010risk patients accurately. Our work aims to rapidly identify NAFLD patients within large electronic health record (EHR) databases for automated stratification and targeted intervention based on clinically relevant phenotypes. We present a rule\u2010based phenotyping algorithm for efficient identification of NAFLD patients developed using EHRs from 6.4 million patients at Columbia University Irving Medical Center (CUIMC) and validated at two independent healthcare centers. The algorithm uses the Observational Medical Outcomes Partnership (OMOP) Common Data Model and queries structured and unstructured data elements, including diagnosis codes, laboratory measurements, and radiology and pathology modalities. Our approach identified 16,006 CUIMC NAFLD patients, 10,753 (67%) previously unidentifiable by NAFLD diagnosis codes. Fibrosis scoring on patients without histology identified 943 subjects with scores indicative of advanced fibrosis (FIB\u20104, APRI, NAFLD\u2013FS). The algorithm was validated at two independent healthcare systems, University of Pennsylvania Health System (UPHS) and Vanderbilt Medical Center (VUMC), where 20,779 and 19,575 NAFLD patients were identified, respectively. Clinical chart review identified a high positive predictive value (PPV) across all healthcare systems: 91% at CUIMC, 75% at UPHS, and 85% at VUMC, and a sensitivity of 79.6%. Our rule\u2010based algorithm provides an accurate, automated approach for rapidly identifying, stratifying, and sub\u2010phenotyping NAFLD patients within a large EHR system.<\/jats:p>","DOI":"10.1111\/cts.70105","type":"journal-article","created":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T05:45:38Z","timestamp":1735623938000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Rapid identification and phenotyping of nonalcoholic fatty liver disease patients using a machine\u2010based approach in diverse healthcare systems"],"prefix":"10.1111","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5112-5880","authenticated-orcid":false,"given":"Anna O.","family":"Basile","sequence":"first","affiliation":[{"name":"Department of Biomedical Informatics Columbia University  New York New York USA"},{"name":"Department of Computational Biology New York Genome Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5063-9107","authenticated-orcid":false,"given":"Anurag","family":"Verma","sequence":"additional","affiliation":[{"name":"Division of Translational Medicine and Human Genetics, Department of Medicine, Institute for Biomedical Informatics University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6431-6069","authenticated-orcid":false,"given":"Leigh Anne","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4899-2160","authenticated-orcid":false,"given":"Marina","family":"Serper","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2416-8687","authenticated-orcid":false,"given":"Andrew","family":"Scanga","sequence":"additional","affiliation":[{"name":"Department of Medicine Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ava","family":"Farrell","sequence":"additional","affiliation":[{"name":"Division of Critical Care, Department of Pediatrics New York Presbyterian Morgan Stanley Children's Hospital of New York  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittney","family":"Destin","sequence":"additional","affiliation":[{"name":"Division of Metabolic and Bariatric Surgery, Department of Surgery Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rotonya M.","family":"Carr","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Department of Medicine University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuli","family":"Anyanwu\u2010Ofili","sequence":"additional","affiliation":[{"name":"Johnson &amp; Johnson Innovative Medicine  Spring House Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0111-1936","authenticated-orcid":false,"given":"Gunaretnam","family":"Rajagopal","sequence":"additional","affiliation":[{"name":"Johnson &amp; Johnson Innovative Medicine  Spring House Pennsylvania USA"},{"name":"Samsara BioCapital  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0809-2999","authenticated-orcid":false,"given":"Abraham","family":"Krikhely","sequence":"additional","affiliation":[{"name":"Division of Metabolic and Bariatric Surgery, Department of Surgery Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4291-2222","authenticated-orcid":false,"given":"Marc","family":"Bessler","sequence":"additional","affiliation":[{"name":"Division of Metabolic and Bariatric Surgery, Department of Surgery Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3035-9386","authenticated-orcid":false,"given":"Muredach P.","family":"Reilly","sequence":"additional","affiliation":[{"name":"Irving Institute for Clinical and Translational Research Columbia University  New York New York USA"},{"name":"Division of Cardiology, Department of Medicine Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1208-1720","authenticated-orcid":false,"given":"Marylyn D.","family":"Ritchie","sequence":"additional","affiliation":[{"name":"Department of Genetics, Institute for Biomedical Informatics University of Pennsylvania Perelman School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2700-2597","authenticated-orcid":false,"given":"Nicholas P.","family":"Tatonetti","sequence":"additional","affiliation":[{"name":"Department of Biomedical Informatics Columbia University  New York New York USA"},{"name":"Department of Computational Biomedicine Cedars\u2010Sinai Medical Center  Los Angeles California USA"},{"name":"Cedars\u2010Sinai Cancer Cedars\u2010Sinai Medical Center  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0368-0860","authenticated-orcid":false,"given":"Julia","family":"Wattacheril","sequence":"additional","affiliation":[{"name":"Division of Digestive and Liver Diseases, Department of Medicine, Center for Liver Disease and Transplantation Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,31]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrgastro.2017.109"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/HEP.0000000000000619"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12916-018-1103-x"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2309000"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.29466"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2029349"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1586\/1744666X.2015.1009895"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737159.2018.1439380"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ajg.2016.44"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034515587863"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijmedinf.2019.06.028"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10620-015-3952-x"},{"key":"e_1_2_12_14_1","first-page":"10","article-title":"Assessment of hepatic steatosis algorithms in non\u2010alcoholic fatty liver disease","volume":"22","author":"Eremi\u0107\u2010Koji\u0107 N","year":"2018","journal-title":"Hippokratia"},{"key":"e_1_2_12_15_1","unstructured":"CCHMC.Non\u2010alcoholic fatty liver disease (NAFLD) & alcoholic fatty liver disease (ALD). PheKB;2016. 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