{"id":"https://openalex.org/W4406892975","doi":"https://doi.org/10.1038/s41746-025-01452-1","title":"A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs","display_name":"A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs","publication_year":2025,"publication_date":"2025-01-28","ids":{"openalex":"https://openalex.org/W4406892975","doi":"https://doi.org/10.1038/s41746-025-01452-1","pmid":"https://pubmed.ncbi.nlm.nih.gov/39875532"},"language":"en","primary_location":{"id":"doi:10.1038/s41746-025-01452-1","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41746-025-01452-1","pdf_url":"https://www.nature.com/articles/s41746-025-01452-1.pdf","source":{"id":"https://openalex.org/S4210195431","display_name":"npj Digital Medicine","issn_l":"2398-6352","issn":["2398-6352"],"is_oa":true,"is_in_doaj":true,"is_core":true,"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":"npj Digital Medicine","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.nature.com/articles/s41746-025-01452-1.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5102602980","display_name":"Xiaohao Mao","orcid":"https://orcid.org/0009-0005-4636-4381"},"institutions":[{"id":"https://openalex.org/I99065089","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549","country_code":"CN","type":"education","lineage":["https://openalex.org/I99065089"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Xiaohao Mao","raw_affiliation_strings":["Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China"],"raw_orcid":"https://orcid.org/0009-0005-4636-4381","affiliations":[{"raw_affiliation_string":"Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025690922","display_name":"Yuying Huang","orcid":"https://orcid.org/0000-0001-8783-198X"},"institutions":[{"id":"https://openalex.org/I2250653659","display_name":"Tencent (China)","ror":"https://ror.org/00hhjss72","country_code":"CN","type":"company","lineage":["https://openalex.org/I2250653659"]},{"id":"https://openalex.org/I99065089","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549","country_code":"CN","type":"education","lineage":["https://openalex.org/I99065089"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yu Huang","raw_affiliation_strings":["Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China. yuhuang.cst@gmail.com","Tencent Jarvis Lab, Shenzhen, China. yuhuang.cst@gmail.com","Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China. yuhuang.cst@gmail.com","institution_ids":["https://openalex.org/I99065089"]},{"raw_affiliation_string":"Tencent Jarvis Lab, Shenzhen, China. yuhuang.cst@gmail.com","institution_ids":["https://openalex.org/I2250653659"]},{"raw_affiliation_string":"Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013877360","display_name":"Ye Jin","orcid":"https://orcid.org/0000-0003-0667-9889"},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ye Jin","raw_affiliation_strings":["Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China","institution_ids":["https://openalex.org/I2801228662","https://openalex.org/I200296433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108046914","display_name":"Lun Wang","orcid":"https://orcid.org/0000-0002-9429-6599"},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lun Wang","raw_affiliation_strings":["Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China","institution_ids":["https://openalex.org/I2801228662","https://openalex.org/I200296433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035687831","display_name":"Xuanzhong Chen","orcid":null},"institutions":[{"id":"https://openalex.org/I99065089","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549","country_code":"CN","type":"education","lineage":["https://openalex.org/I99065089"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xuanzhong Chen","raw_affiliation_strings":["Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China"],"raw_orcid":"https://orcid.org/0009-0002-1214-6130","affiliations":[{"raw_affiliation_string":"Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101991383","display_name":"Honghong Liu","orcid":"https://orcid.org/0009-0006-9260-2384"},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Honghong Liu","raw_affiliation_strings":["Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China","institution_ids":["https://openalex.org/I2801228662","https://openalex.org/I200296433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033344366","display_name":"Xinglin Yang","orcid":"https://orcid.org/0000-0002-4643-001X"},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xinglin Yang","raw_affiliation_strings":["Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China","institution_ids":["https://openalex.org/I2801228662","https://openalex.org/I200296433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080309265","display_name":"Haopeng Xu","orcid":"https://orcid.org/0000-0002-0245-0844"},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Haopeng Xu","raw_affiliation_strings":["Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035833039","display_name":"Xiaodong Luan","orcid":"https://orcid.org/0000-0002-1279-5432"},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaodong Luan","raw_affiliation_strings":["State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China","institution_ids":["https://openalex.org/I2801228662","https://openalex.org/I200296433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5115595180","display_name":"Ying Xiao","orcid":"https://orcid.org/0009-0008-7041-503X"},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ying Xiao","raw_affiliation_strings":["Department of Geriatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Geriatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China","institution_ids":["https://openalex.org/I2801228662","https://openalex.org/I200296433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012873534","display_name":"Siqin Feng","orcid":"https://orcid.org/0000-0003-0823-2175"},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Siqin Feng","raw_affiliation_strings":["Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China","institution_ids":["https://openalex.org/I2801228662","https://openalex.org/I200296433"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103107507","display_name":"Jiahao Zhu","orcid":"https://orcid.org/0000-0002-1033-5424"},"institutions":[{"id":"https://openalex.org/I99065089","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549","country_code":"CN","type":"education","lineage":["https://openalex.org/I99065089"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jiahao Zhu","raw_affiliation_strings":["Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081242795","display_name":"Xuegong Zhang","orcid":"https://orcid.org/0000-0002-9684-5643"},"institutions":[{"id":"https://openalex.org/I99065089","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549","country_code":"CN","type":"education","lineage":["https://openalex.org/I99065089"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xuegong Zhang","raw_affiliation_strings":["Department of Automation & BNRist, Tsinghua University, Beijing, China"],"raw_orcid":"https://orcid.org/0000-0002-9684-5643","affiliations":[{"raw_affiliation_string":"Department of Automation & BNRist, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100623015","display_name":"Rui Jiang","orcid":"https://orcid.org/0000-0002-7533-3753"},"institutions":[{"id":"https://openalex.org/I99065089","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549","country_code":"CN","type":"education","lineage":["https://openalex.org/I99065089"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Rui Jiang","raw_affiliation_strings":["Department of Automation & BNRist, Tsinghua University, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Automation & BNRist, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073931873","display_name":"Shuyang Zhang","orcid":"https://orcid.org/0000-0002-4592-4966"},"institutions":[{"id":"https://openalex.org/I200296433","display_name":"Chinese Academy of Medical Sciences & Peking Union Medical College","ror":"https://ror.org/02drdmm93","country_code":"CN","type":"education","lineage":["https://openalex.org/I200296433"]},{"id":"https://openalex.org/I2801228662","display_name":"Peking Union Medical College Hospital","ror":"https://ror.org/04jztag35","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I2801228662"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Shuyang Zhang","raw_affiliation_strings":["Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. shuyangzhang103@nrdrs.org","Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. shuyangzhang103@nrdrs.org","institution_ids":["https://openalex.org/I200296433","https://openalex.org/I2801228662"]},{"raw_affiliation_string":"Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China","institution_ids":["https://openalex.org/I2801228662","https://openalex.org/I200296433"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100443189","display_name":"Ting Chen","orcid":"https://orcid.org/0000-0002-3228-9166"},"institutions":[{"id":"https://openalex.org/I99065089","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549","country_code":"CN","type":"education","lineage":["https://openalex.org/I99065089"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ting Chen","raw_affiliation_strings":["Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China. tingchen@mail.tsinghua.edu.cn","Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China"],"raw_orcid":"https://orcid.org/0000-0002-3228-9166","affiliations":[{"raw_affiliation_string":"Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China. tingchen@mail.tsinghua.edu.cn","institution_ids":["https://openalex.org/I99065089"]},{"raw_affiliation_string":"Department of Computer Science and Technology & Institute for Artificial Intelligence & BNRist, Tsinghua University, Beijing, China","institution_ids":["https://openalex.org/I99065089"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":16,"corresponding_author_ids":["https://openalex.org/A5102602980"],"corresponding_institution_ids":["https://openalex.org/I99065089"],"apc_list":{"value":3060,"currency":"USD","value_usd":3060},"apc_paid":{"value":3060,"currency":"USD","value_usd":3060},"fwci":13.4882,"has_fulltext":true,"cited_by_count":22,"citation_normalized_percentile":{"value":0.99150641,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"8","issue":"1","first_page":"68","last_page":"68"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9957000017166138,"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/T10028","display_name":"Topic Modeling","score":0.9909999966621399,"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/recall","display_name":"Recall","score":0.7433720231056213},{"id":"https://openalex.org/keywords/pipeline","display_name":"Pipeline (software)","score":0.7018944621086121},{"id":"https://openalex.org/keywords/workflow","display_name":"Workflow","score":0.6819208264350891},{"id":"https://openalex.org/keywords/medical-diagnosis","display_name":"Medical diagnosis","score":0.6214684247970581},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5692073106765747},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.5362951159477234},{"id":"https://openalex.org/keywords/precision-and-recall","display_name":"Precision and recall","score":0.52689528465271},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.45569103956222534},{"id":"https://openalex.org/keywords/natural-language-processing","display_name":"Natural language processing","score":0.4326527416706085},{"id":"https://openalex.org/keywords/rare-disease","display_name":"Rare disease","score":0.4128879904747009},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.3927498161792755},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.3450869619846344},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.221806138753891},{"id":"https://openalex.org/keywords/psychology","display_name":"Psychology","score":0.2017909586429596},{"id":"https://openalex.org/keywords/cognitive-psychology","display_name":"Cognitive psychology","score":0.11332479119300842},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.08883199095726013}],"concepts":[{"id":"https://openalex.org/C100660578","wikidata":"https://www.wikidata.org/wiki/Q18733","display_name":"Recall","level":2,"score":0.7433720231056213},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.7018944621086121},{"id":"https://openalex.org/C177212765","wikidata":"https://www.wikidata.org/wiki/Q627335","display_name":"Workflow","level":2,"score":0.6819208264350891},{"id":"https://openalex.org/C534262118","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Medical diagnosis","level":2,"score":0.6214684247970581},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5692073106765747},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.5362951159477234},{"id":"https://openalex.org/C81669768","wikidata":"https://www.wikidata.org/wiki/Q2359161","display_name":"Precision and recall","level":2,"score":0.52689528465271},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.45569103956222534},{"id":"https://openalex.org/C204321447","wikidata":"https://www.wikidata.org/wiki/Q30642","display_name":"Natural language processing","level":1,"score":0.4326527416706085},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.4128879904747009},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3927498161792755},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3450869619846344},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.221806138753891},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.2017909586429596},{"id":"https://openalex.org/C180747234","wikidata":"https://www.wikidata.org/wiki/Q23373","display_name":"Cognitive psychology","level":1,"score":0.11332479119300842},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.08883199095726013},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1038/s41746-025-01452-1","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41746-025-01452-1","pdf_url":"https://www.nature.com/articles/s41746-025-01452-1.pdf","source":{"id":"https://openalex.org/S4210195431","display_name":"npj Digital Medicine","issn_l":"2398-6352","issn":["2398-6352"],"is_oa":true,"is_in_doaj":true,"is_core":true,"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":"npj Digital Medicine","raw_type":"journal-article"},{"id":"pmid:39875532","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39875532","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,"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":"NPJ digital medicine","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:11775211","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11775211","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11775211/pdf/41746_2025_Article_1452.pdf","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,"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"NPJ Digit Med","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:928ab9111ce24cde9c384c5d71a14586","is_oa":true,"landing_page_url":"https://doaj.org/article/928ab9111ce24cde9c384c5d71a14586","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,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"npj Digital Medicine, Vol 8, Iss 1, Pp 1-15 (2025)","raw_type":"article"},{"id":"pmh:oai:ora.ox.ac.uk:uuid:7f0e0809-86d0-4014-ac56-7773a2559476","is_oa":false,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4306402636","display_name":"Oxford University Research Archive (ORA) (University of Oxford)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I40120149","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/I40120149"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Jisc Publications Router","raw_type":"http://purl.org/coar/resource_type/c_dcae04bc"}],"best_oa_location":{"id":"doi:10.1038/s41746-025-01452-1","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41746-025-01452-1","pdf_url":"https://www.nature.com/articles/s41746-025-01452-1.pdf","source":{"id":"https://openalex.org/S4210195431","display_name":"npj Digital Medicine","issn_l":"2398-6352","issn":["2398-6352"],"is_oa":true,"is_in_doaj":true,"is_core":true,"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":"npj Digital Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.5799999833106995,"id":"https://metadata.un.org/sdg/4","display_name":"Quality Education"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322392","display_name":"Tsinghua University","ror":"https://ror.org/03cve4549"},{"id":"https://openalex.org/F4320329777","display_name":"Beijing National Research Center For Information Science And Technology","ror":null}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4406892975.pdf","grobid_xml":"https://content.openalex.org/works/W4406892975.grobid-xml"},"referenced_works_count":59,"referenced_works":["https://openalex.org/W90362830","https://openalex.org/W954754213","https://openalex.org/W1701211704","https://openalex.org/W1979945892","https://openalex.org/W1983965561","https://openalex.org/W2012361142","https://openalex.org/W2020516515","https://openalex.org/W2051222283","https://openalex.org/W2076434944","https://openalex.org/W2080770151","https://openalex.org/W2084168100","https://openalex.org/W2106258298","https://openalex.org/W2109555487","https://openalex.org/W2110586068","https://openalex.org/W2119412782","https://openalex.org/W2122402213","https://openalex.org/W2130011177","https://openalex.org/W2136410628","https://openalex.org/W2146089916","https://openalex.org/W2159348493","https://openalex.org/W2159583324","https://openalex.org/W2162142896","https://openalex.org/W2408754830","https://openalex.org/W2410525650","https://openalex.org/W2557385283","https://openalex.org/W2560674852","https://openalex.org/W2575171872","https://openalex.org/W2601828961","https://openalex.org/W2799961301","https://openalex.org/W2800915484","https://openalex.org/W2808672056","https://openalex.org/W2809721358","https://openalex.org/W2848983148","https://openalex.org/W2901332105","https://openalex.org/W2903240400","https://openalex.org/W2911737122","https://openalex.org/W2943735103","https://openalex.org/W2951146425","https://openalex.org/W2951752341","https://openalex.org/W2963583956","https://openalex.org/W2988630324","https://openalex.org/W3027582835","https://openalex.org/W3031191781","https://openalex.org/W3047173169","https://openalex.org/W3084643244","https://openalex.org/W3087028093","https://openalex.org/W3106811464","https://openalex.org/W4200379503","https://openalex.org/W4214613209","https://openalex.org/W4224997359","https://openalex.org/W4226189594","https://openalex.org/W4361289889","https://openalex.org/W4362704228","https://openalex.org/W4378746344","https://openalex.org/W4384337834","https://openalex.org/W4385570521","https://openalex.org/W4385848332","https://openalex.org/W6600281463","https://openalex.org/W6702248584"],"related_works":["https://openalex.org/W1981780420","https://openalex.org/W2182707996","https://openalex.org/W45233828","https://openalex.org/W2964988449","https://openalex.org/W2397952901","https://openalex.org/W2029380707","https://openalex.org/W188202134","https://openalex.org/W4255934811","https://openalex.org/W2358294942","https://openalex.org/W4367460280"],"abstract_inverted_index":{"Rare":[0],"diseases,":[1],"affecting":[2],"~350":[3],"million":[4],"people":[5],"worldwide,":[6],"pose":[7],"significant":[8],"challenges":[9],"in":[10,56,170],"clinical":[11,54,171],"diagnosis":[12],"due":[13],"to":[14,50,161,166],"the":[15,21,138,158],"lack":[16],"of":[17,23,67,101,107,129,135,140],"experienced":[18],"physicians":[19,143],"and":[20,58,75,103,131,144,150],"complexity":[22],"differentiating":[24],"between":[25],"numerous":[26],"rare":[27,68,80,88],"diseases.":[28,69,89],"To":[29],"address":[30],"these":[31],"challenges,":[32],"we":[33],"introduce":[34],"PhenoBrain,":[35],"a":[36,44,104,115,126,132],"fully":[37],"automated":[38],"artificial":[39],"intelligence":[40],"pipeline.":[41],"PhenoBrain":[42,94,121],"utilizes":[43],"BERT-based":[45],"natural":[46],"language":[47,146],"processing":[48],"model":[49],"extract":[51],"phenotypes":[52],"from":[53],"texts":[55],"EHRs":[57],"employs":[59],"five":[60],"new":[61],"diagnostic":[62,168],"models":[63,147],"for":[64],"differential":[65],"diagnoses":[66],"The":[70],"AI":[71],"system":[72],"was":[73],"developed":[74],"evaluated":[76],"on":[77],"diverse,":[78],"multi-country":[79],"disease":[81],"datasets,":[82],"comprising":[83],"2271":[84],"cases":[85],"with":[86,118,125,155],"431":[87],"In":[90,114],"1936":[91],"test":[92],"cases,":[93,120],"achieved":[95],"an":[96],"average":[97],"predicted":[98],"top-3":[99,127,159],"recall":[100,106,128,134,160],"0.513":[102],"top-10":[105,133],"0.654,":[108],"surpassing":[109,137],"13":[110],"leading":[111],"prediction":[112],"methods.":[113],"human-computer":[116],"study":[117],"75":[119],"exhibited":[122],"exceptional":[123],"performance":[124,139],"0.613":[130],"0.813,":[136],"50":[141],"specialist":[142],"large":[145],"like":[148],"ChatGPT":[149],"GPT-4.":[151],"Combining":[152],"PhenoBrain's":[153],"predictions":[154],"specialists":[156],"increased":[157],"0.768,":[162],"demonstrating":[163],"its":[164],"potential":[165],"enhance":[167],"accuracy":[169],"workflows.":[172]},"counts_by_year":[{"year":2026,"cited_by_count":12},{"year":2025,"cited_by_count":10}],"updated_date":"2026-05-28T09:10:13.091523","created_date":"2025-10-10T00:00:00"}
