{"id":"https://openalex.org/W4410447989","doi":"https://doi.org/10.3233/shti250268","title":"Generating Focused Probabilistic Models for Diagnosis of Rare Diseases","display_name":"Generating Focused Probabilistic Models for Diagnosis of Rare Diseases","publication_year":2025,"publication_date":"2025-05-15","ids":{"openalex":"https://openalex.org/W4410447989","doi":"https://doi.org/10.3233/shti250268","pmid":"https://pubmed.ncbi.nlm.nih.gov/40380380"},"language":"en","primary_location":{"id":"doi:10.3233/shti250268","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti250268","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI250268","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"type":"book-chapter","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI250268","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5085037175","display_name":"Charles E. Kahn","orcid":"https://orcid.org/0000-0002-6654-7434"},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Charles E. Kahn, Jr.","raw_affiliation_strings":["University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":"https://orcid.org/0000-0002-6654-7434","affiliations":[{"raw_affiliation_string":"University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5085037175"],"corresponding_institution_ids":["https://openalex.org/I79576946"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.21219118,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"327","issue":null,"first_page":"32","last_page":"36"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9484000205993652,"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":0.9484000205993652,"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":0.9254000186920166,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9016000032424927,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6842669248580933},{"id":"https://openalex.org/keywords/abnormality","display_name":"Abnormality","score":0.666922926902771},{"id":"https://openalex.org/keywords/probabilistic-logic","display_name":"Probabilistic logic","score":0.6569764018058777},{"id":"https://openalex.org/keywords/medical-diagnosis","display_name":"Medical diagnosis","score":0.6384432911872864},{"id":"https://openalex.org/keywords/bayesian-network","display_name":"Bayesian network","score":0.5727983713150024},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.5329075455665588},{"id":"https://openalex.org/keywords/granularity","display_name":"Granularity","score":0.4809412360191345},{"id":"https://openalex.org/keywords/inheritance","display_name":"Inheritance (genetic algorithm)","score":0.46359768509864807},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.3810904622077942},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.3755593001842499},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.3532414734363556},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.16028383374214172},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.10185357928276062},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.09305712580680847}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6842669248580933},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.666922926902771},{"id":"https://openalex.org/C49937458","wikidata":"https://www.wikidata.org/wiki/Q2599292","display_name":"Probabilistic logic","level":2,"score":0.6569764018058777},{"id":"https://openalex.org/C534262118","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Medical diagnosis","level":2,"score":0.6384432911872864},{"id":"https://openalex.org/C33724603","wikidata":"https://www.wikidata.org/wiki/Q812540","display_name":"Bayesian network","level":2,"score":0.5727983713150024},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5329075455665588},{"id":"https://openalex.org/C177774035","wikidata":"https://www.wikidata.org/wiki/Q1246948","display_name":"Granularity","level":2,"score":0.4809412360191345},{"id":"https://openalex.org/C2780902518","wikidata":"https://www.wikidata.org/wiki/Q6033780","display_name":"Inheritance (genetic algorithm)","level":3,"score":0.46359768509864807},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.3810904622077942},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.3755593001842499},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3532414734363556},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.16028383374214172},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.10185357928276062},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.09305712580680847},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","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/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003936","descriptor_name":"Diagnosis, Computer-Assisted","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D003936","descriptor_name":"Diagnosis, Computer-Assisted","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.3233/shti250268","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti250268","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI250268","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},{"id":"pmid:40380380","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40380380","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":"Studies in health technology and informatics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.3233/shti250268","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti250268","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI250268","source":{"id":"https://openalex.org/S4210179765","display_name":"Studies in health technology and informatics","issn_l":"0926-9630","issn":["0926-9630","1879-8365"],"is_oa":false,"is_in_doaj":false,"is_core":true,"host_organization":"https://openalex.org/P4310318577","host_organization_name":"IOS Press","host_organization_lineage":["https://openalex.org/P4310318577"],"host_organization_lineage_names":["IOS Press"],"type":"book series"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Studies in Health Technology and Informatics","raw_type":"book-chapter"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4410447989.pdf","grobid_xml":"https://content.openalex.org/works/W4410447989.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2931688134","https://openalex.org/W2377919138","https://openalex.org/W2378857091","https://openalex.org/W103652678","https://openalex.org/W4226090359","https://openalex.org/W2059697060","https://openalex.org/W936373746","https://openalex.org/W2975817033","https://openalex.org/W4256502920","https://openalex.org/W2124898661"],"abstract_inverted_index":{"Rare":[0],"diseases":[1,57,147],"are":[2],"challenging":[3],"to":[4,18,22,50,96,105,121,151,165],"diagnose":[5],"and":[6,84,125,138,148,162],"collectively":[7],"affect":[8],"a":[9,33,40,43,114],"large":[10],"fraction":[11],"of":[12,32,80,88,113,116,127,134,136,141,160],"the":[13,30,61,78,81,86,94,98,102,123,128,142,169],"population.":[14],"This":[15],"work":[16,131],"sought":[17],"develop":[19],"an":[20],"approach":[21,38,75],"generate":[23],"models":[24],"for":[25,111],"probabilistic":[26],"reasoning":[27],"focused":[28],"on":[29,155],"presence":[31],"specified":[34,62],"phenotypic":[35,68,149],"abnormality.":[36],"The":[37,74],"generates":[39],"Bayesian":[41],"network,":[42],"graphical":[44],"AI":[45],"model":[46,95,110],"that":[47,54,58,100],"uses":[48],"probability":[49],"reason":[51],"under":[52],"uncertainty,":[53],"includes":[55,132],"all":[56,67],"can":[59,92],"cause":[60],"abnormality":[63],"as":[64,66],"well":[65],"abnormalities":[69,150],"caused":[70],"by":[71],"those":[72],"diseases.":[73],"efficiently":[76],"computes":[77],"probabilities":[79],"possible":[82],"diagnoses":[83],"evaluates":[85],"impact":[87],"additional":[89],"evidence.":[90],"One":[91],"use":[93],"identify":[97],"observations":[99],"yield":[101],"greatest":[103],"information":[104,156],"reduce":[106],"uncertainty.":[107],"An":[108],"example":[109],"diagnosis":[112,153],"finding":[115],"enlarged":[117],"kidney":[118],"is":[119],"presented":[120],"demonstrate":[122],"feasibility":[124],"advantages":[126],"approach.":[129],"Further":[130],"incorporation":[133],"age":[135],"onset":[137],"inheritance":[139],"pattern":[140],"diseases,":[143],"hierarchical":[144],"relationships":[145],"among":[146],"allow":[152],"based":[154],"at":[157],"varying":[158],"levels":[159],"granularity,":[161],"user":[163],"interfaces":[164],"simplify":[166],"interaction":[167],"with":[168],"models.":[170]},"counts_by_year":[],"updated_date":"2026-08-21T09:56:20.448147","created_date":"2025-10-10T00:00:00"}