{"id":"https://openalex.org/W7160619170","doi":"https://doi.org/10.48550/arxiv.2605.06226","title":"A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization","display_name":"A Versatile AI Agent for Rare Disease Diagnosis and Risk Gene Prioritization","publication_year":2026,"publication_date":"2026-05-07","ids":{"openalex":"https://openalex.org/W7160619170","doi":"https://doi.org/10.48550/arxiv.2605.06226"},"language":null,"primary_location":{"id":"doi:10.48550/arxiv.2605.06226","is_oa":true,"landing_page_url":"https://doi.org/10.48550/arxiv.2605.06226","pdf_url":null,"source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Preprint"},"type":"preprint","indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.48550/arxiv.2605.06226","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5135658318","display_name":"Tianyu Liyuan Liu","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Liu, Tianyu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102234612","display_name":"Wangjie Zheng","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zheng, Wangjie","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135695290","display_name":"Rui Yang","orcid":"https://orcid.org/0000-0002-6381-5202"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yang, Rui","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043222846","display_name":"Benny Kai Guo Loo","orcid":"https://orcid.org/0000-0001-6385-8520"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Loo, Benny Kai Guo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135724327","display_name":"Hui Zhang","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zhang, Hui","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135653476","display_name":"Jeffries Lauran","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lauran, Jeffries","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061896206","display_name":"Jianlei Gu","orcid":"https://orcid.org/0000-0002-9337-5017"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gu, Jianlei","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135701952","display_name":"Botao Yu","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yu, Botao","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135664098","display_name":"Weihao Xuan","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xuan, Weihao","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135710926","display_name":"Kexin Huang","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Huang, Kexin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135643603","display_name":"Nan Liu","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Liu, Nan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135667748","display_name":"James Zou","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zou, James","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135690791","display_name":"Yonghui Jiang","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jiang, Yonghui","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5135725146","display_name":"Hua Xu","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xu, Hua","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5135702094","display_name":"Hongyu Zhao","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zhao, Hongyu","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.899399995803833,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.899399995803833,"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/T13702","display_name":"Machine Learning in Healthcare","score":0.028599999845027924,"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"}},{"id":"https://openalex.org/T11636","display_name":"Artificial Intelligence in Healthcare and Education","score":0.017100000753998756,"subfield":{"id":"https://openalex.org/subfields/2718","display_name":"Health Informatics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/interpretability","display_name":"Interpretability","score":0.7950000166893005},{"id":"https://openalex.org/keywords/prioritization","display_name":"Prioritization","score":0.6158999800682068},{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.5882999897003174},{"id":"https://openalex.org/keywords/workflow","display_name":"Workflow","score":0.5389999747276306},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.5041000247001648},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"Precision medicine","score":0.4580000042915344},{"id":"https://openalex.org/keywords/clinical-decision-support-system","display_name":"Clinical decision support system","score":0.439300000667572},{"id":"https://openalex.org/keywords/medical-diagnosis","display_name":"Medical diagnosis","score":0.4115999937057495},{"id":"https://openalex.org/keywords/rare-disease","display_name":"Rare disease","score":0.41040000319480896}],"concepts":[{"id":"https://openalex.org/C2781067378","wikidata":"https://www.wikidata.org/wiki/Q17027399","display_name":"Interpretability","level":2,"score":0.7950000166893005},{"id":"https://openalex.org/C2777615720","wikidata":"https://www.wikidata.org/wiki/Q11888847","display_name":"Prioritization","level":2,"score":0.6158999800682068},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6154999732971191},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.5882999897003174},{"id":"https://openalex.org/C177212765","wikidata":"https://www.wikidata.org/wiki/Q627335","display_name":"Workflow","level":2,"score":0.5389999747276306},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5041000247001648},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.4580000042915344},{"id":"https://openalex.org/C63527458","wikidata":"https://www.wikidata.org/wiki/Q5133829","display_name":"Clinical decision support system","level":3,"score":0.439300000667572},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.412200003862381},{"id":"https://openalex.org/C534262118","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Medical diagnosis","level":2,"score":0.4115999937057495},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.41040000319480896},{"id":"https://openalex.org/C3020132585","wikidata":"https://www.wikidata.org/wiki/Q2671652","display_name":"Diagnostic accuracy","level":2,"score":0.4099000096321106},{"id":"https://openalex.org/C195910791","wikidata":"https://www.wikidata.org/wiki/Q1324077","display_name":"Medical record","level":2,"score":0.3472000062465668},{"id":"https://openalex.org/C2983449737","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Clinical diagnosis","level":2,"score":0.3447999954223633},{"id":"https://openalex.org/C107327155","wikidata":"https://www.wikidata.org/wiki/Q330268","display_name":"Decision support system","level":2,"score":0.34119999408721924},{"id":"https://openalex.org/C82157600","wikidata":"https://www.wikidata.org/wiki/Q2671652","display_name":"Diagnostic test","level":2,"score":0.3328000009059906},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.32330000400543213},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.3215000033378601},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.31189998984336853},{"id":"https://openalex.org/C12174686","wikidata":"https://www.wikidata.org/wiki/Q1058438","display_name":"Risk assessment","level":2,"score":0.310699999332428},{"id":"https://openalex.org/C112930515","wikidata":"https://www.wikidata.org/wiki/Q4389547","display_name":"Risk analysis (engineering)","level":1,"score":0.3084999918937683},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.2992999851703644},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.29660001397132874},{"id":"https://openalex.org/C2779974597","wikidata":"https://www.wikidata.org/wiki/Q28448986","display_name":"Clinical Practice","level":2,"score":0.2913999855518341},{"id":"https://openalex.org/C2989179672","wikidata":"https://www.wikidata.org/wiki/Q6806500","display_name":"Clinical decision making","level":2,"score":0.29100000858306885},{"id":"https://openalex.org/C32220436","wikidata":"https://www.wikidata.org/wiki/Q2072214","display_name":"Personalized medicine","level":2,"score":0.2865999937057495},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2815999984741211},{"id":"https://openalex.org/C2983241795","wikidata":"https://www.wikidata.org/wiki/Q6806500","display_name":"Medical decision making","level":2,"score":0.2797999978065491},{"id":"https://openalex.org/C19527891","wikidata":"https://www.wikidata.org/wiki/Q1120908","display_name":"Medical physics","level":1,"score":0.27149999141693115},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.26809999346733093}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.48550/arxiv.2605.06226","is_oa":true,"landing_page_url":"https://doi.org/10.48550/arxiv.2605.06226","pdf_url":null,"source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":"Preprint"}],"best_oa_location":{"id":"doi:10.48550/arxiv.2605.06226","is_oa":true,"landing_page_url":"https://doi.org/10.48550/arxiv.2605.06226","pdf_url":null,"source":{"id":"https://openalex.org/S4306400194","display_name":"arXiv (Cornell University)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I205783295","host_organization_name":"Cornell University","host_organization_lineage":["https://openalex.org/I205783295"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Preprint"},"sustainable_development_goals":[{"score":0.6234893798828125,"display_name":"Peace, Justice and strong institutions","id":"https://metadata.un.org/sdg/16"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":[],"abstract_inverted_index":{"Accurate":[0],"and":[1,26,57,64,70,87,120,145,169],"timely":[2],"diagnosis":[3,46],"is":[4],"essential":[5],"for":[6,84,155],"effective":[7],"treatment,":[8],"particularly":[9],"in":[10,149,184],"the":[11],"context":[12],"of":[13,118],"rare":[14,85],"diseases.":[15],"However,":[16],"current":[17],"diagnostic":[18,72,108,135,167],"workflows":[19],"often":[20],"lead":[21],"to":[22,42,74,91,138],"prolonged":[23],"assessment":[24],"times":[25],"low":[27],"accuracy.":[28],"To":[29],"address":[30],"these":[31],"limitations,":[32],"we":[33,124],"introduce":[34],"Hygieia,":[35],"a":[36,62,97,181],"multi-modal":[37],"AI":[38],"agent":[39],"system":[40],"designed":[41],"support":[43,187],"precision":[44],"disease":[45,76],"by":[47,130],"integrating":[48],"diverse":[49],"data":[50],"sources,":[51],"including":[52],"phenotypic":[53],"features,":[54],"genetic":[55],"profiles,":[56],"clinical":[58,93,113,185],"records.":[59],"Hygieia":[60,102,163],"features":[61],"router-based":[63],"knowledge-enhanced":[65],"framework":[66],"that":[67,101,162],"mitigates":[68],"hallucination":[69],"tailors":[71],"strategies":[73],"different":[75],"categories.":[77],"Notably,":[78],"it":[79],"prioritizes":[80],"risk-related":[81],"genomic":[82],"factors":[83],"diseases":[86],"provides":[88],"confidence":[89],"scores":[90],"assist":[92],"decision-making.":[94],"We":[95],"conducted":[96],"comprehensive":[98],"evaluation":[99],"demonstrating":[100],"achieves":[103],"state-of-the-art":[104],"performance":[105,136],"across":[106],"multiple":[107],"benchmarks.":[109],"In":[110],"collaboration":[111],"with":[112,140,152],"experts":[114],"from":[115,143],"Yale":[116],"School":[117],"Medicine":[119],"Duke-NUS":[121],"Medical":[122],"School,":[123],"further":[125],"validated":[126],"its":[127,147,178],"practical":[128],"utility":[129],"showing":[131],"(1)":[132],"Hygieia's":[133],"superior":[134],"compared":[137],"physicians":[139],"an":[141],"improvement":[142],"12%-60%":[144],"(2)":[146],"effectiveness":[148],"assisting":[150],"clinicians":[151],"medical":[153],"records":[154],"handling":[156],"real-world":[157],"cases.":[158],"Our":[159],"findings":[160],"indicate":[161],"not":[164],"only":[165],"enhances":[166],"accuracy":[168],"interpretability":[170],"but":[171],"also":[172],"significantly":[173],"reduces":[174],"clinician":[175],"workload,":[176],"highlighting":[177],"potential":[179],"as":[180],"valuable":[182],"tool":[183],"decision":[186],"systems.":[188]},"counts_by_year":[],"updated_date":"2026-07-01T06:00:48.157686","created_date":"2026-05-09T00:00:00"}
