{"id":"https://openalex.org/W4410447841","doi":"https://doi.org/10.3233/shti250286","title":"Identifying Phenotypes for Earlier Diagnosis of Rare Diseases","display_name":"Identifying Phenotypes for Earlier Diagnosis of Rare Diseases","publication_year":2025,"publication_date":"2025-05-15","ids":{"openalex":"https://openalex.org/W4410447841","doi":"https://doi.org/10.3233/shti250286","pmid":"https://pubmed.ncbi.nlm.nih.gov/40380398"},"language":"en","primary_location":{"id":"doi:10.3233/shti250286","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti250286","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI250286","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/SHTI250286","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5051450267","display_name":"Casey Ta","orcid":"https://orcid.org/0000-0002-4679-805X"},"institutions":[{"id":"https://openalex.org/I2799503643","display_name":"Columbia University Irving Medical Center","ror":"https://ror.org/01esghr10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799503643"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Casey N. Ta","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, U.S.A"],"raw_orcid":"https://orcid.org/0000-0002-4679-805X","affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, U.S.A","institution_ids":["https://openalex.org/I2799503643"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100331534","display_name":"Cong Liu","orcid":"https://orcid.org/0000-0001-6024-3037"},"institutions":[{"id":"https://openalex.org/I1288882113","display_name":"Boston Children's Hospital","ror":"https://ror.org/00dvg7y05","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1288882113"]},{"id":"https://openalex.org/I2799503643","display_name":"Columbia University Irving Medical Center","ror":"https://ror.org/01esghr10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799503643"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cong Liu","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, U.S.A","Division of Genetics and Genomics, Department of Pediatrics, Boston Children\u2019s Hospital, Boston, MA, U.S.A"],"raw_orcid":"https://orcid.org/0000-0001-6024-3037","affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, U.S.A","institution_ids":["https://openalex.org/I2799503643"]},{"raw_affiliation_string":"Division of Genetics and Genomics, Department of Pediatrics, Boston Children\u2019s Hospital, Boston, MA, U.S.A","institution_ids":["https://openalex.org/I1288882113"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009604048","display_name":"Chunhua Weng","orcid":"https://orcid.org/0000-0002-9624-0214"},"institutions":[{"id":"https://openalex.org/I2799503643","display_name":"Columbia University Irving Medical Center","ror":"https://ror.org/01esghr10","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799503643"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chunhua Weng","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, U.S.A"],"raw_orcid":"https://orcid.org/0000-0002-9624-0214","affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, U.S.A","institution_ids":["https://openalex.org/I2799503643"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.21196029,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"327","issue":null,"first_page":"123","last_page":"127"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9944999814033508,"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":0.9944999814033508,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9779000282287598,"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/phenotype","display_name":"Phenotype","score":0.754790186882019},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.6956775188446045},{"id":"https://openalex.org/keywords/clinical-phenotype","display_name":"Clinical phenotype","score":0.6573902368545532},{"id":"https://openalex.org/keywords/rare-disease","display_name":"Rare disease","score":0.628077507019043},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.5040761232376099},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.44674575328826904},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.33288219571113586},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2977023720741272},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.2806866765022278},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.23142892122268677},{"id":"https://openalex.org/keywords/environmental-health","display_name":"Environmental health","score":0.06928232312202454},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.0635325014591217}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.754790186882019},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6956775188446045},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.6573902368545532},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.628077507019043},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5040761232376099},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.44674575328826904},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.33288219571113586},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2977023720741272},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2806866765022278},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.23142892122268677},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.06928232312202454},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0635325014591217}],"mesh":[{"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":"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":"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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000145","qualifier_name":"classification","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},{"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},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D042241","descriptor_name":"Early Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D042241","descriptor_name":"Early Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D042241","descriptor_name":"Early Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D042241","descriptor_name":"Early Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D057225","descriptor_name":"Data Mining","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.3233/shti250286","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti250286","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI250286","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:40380398","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40380398","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"},{"id":"pmh:oai:pubmedcentral.nih.gov:12088373","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12088373","pdf_url":null,"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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Stud Health Technol Inform","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.3233/shti250286","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti250286","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI250286","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":[{"display_name":"Peace, Justice and strong institutions","id":"https://metadata.un.org/sdg/16","score":0.6100000143051147}],"awards":[{"id":"https://openalex.org/G1649907073","display_name":null,"funder_award_id":"R01 HG013031","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G3188360120","display_name":null,"funder_award_id":"OT2TR003449","funder_id":"https://openalex.org/F4320337472","funder_display_name":"National Center for Advancing Translational Sciences"},{"id":"https://openalex.org/G3766621575","display_name":null,"funder_award_id":"OT2TR003434","funder_id":"https://openalex.org/F4320337472","funder_display_name":"National Center for Advancing Translational Sciences"},{"id":"https://openalex.org/G5763468455","display_name":null,"funder_award_id":"R01 HG012655","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"}],"funders":[{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4410447841.pdf","grobid_xml":"https://content.openalex.org/works/W4410447841.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3197267427","https://openalex.org/W2604464132","https://openalex.org/W3164771895","https://openalex.org/W2161088626","https://openalex.org/W3029893540","https://openalex.org/W2314682585","https://openalex.org/W2186179281","https://openalex.org/W2313584493","https://openalex.org/W1995787398","https://openalex.org/W2135667114"],"abstract_inverted_index":{"Rare":[0],"diseases,":[1,28],"while":[2],"individually":[3],"rare,":[4],"cumulatively":[5],"affect":[6],"a":[7,65],"large":[8],"population,":[9],"and":[10,15,37,44,83],"patients":[11],"often":[12],"undergo":[13],"long":[14],"arduous":[16],"diagnostic":[17],"odysseys.":[18],"Toward":[19],"the":[20,49,52,89,97,100],"goal":[21],"of":[22,26,33,51,54,56,86,88,99],"supporting":[23],"earlier":[24],"diagnosis":[25],"rare":[27,35,74],"we":[29],"developed":[30],"generalizable":[31],"methods":[32],"extracting":[34],"diseases":[36],"phenotypes":[38,57],"from":[39],"structured":[40],"electronic":[41],"health":[42],"records":[43],"clinical":[45,101],"notes.":[46],"We":[47],"analyzed":[48],"distributions":[50],"age":[53,85],"onset":[55,87],"per":[58],"disease":[59,81],"to":[60,91,96],"identify":[61],"disease-phenotype":[62],"associations,":[63],"producing":[64],"dataset":[66],"with":[67],"over":[68],"500":[69],"thousand":[70],"associations":[71,77],"covering":[72],"2300":[73],"diseases.":[75],"Disease-phenotype":[76],"are":[78],"characterized":[79],"by":[80],"prevalence":[82],"mean":[84],"phenotype":[90,93],"aid":[92],"selection":[94],"according":[95],"priorities":[98],"decision":[102],"support":[103],"task.":[104]},"counts_by_year":[],"updated_date":"2026-08-21T09:56:20.448147","created_date":"2025-10-10T00:00:00"}
