{"id":"https://openalex.org/W4412859815","doi":"https://doi.org/10.1038/s41746-025-01815-8","title":"Multi-domain rule-based phenotyping algorithms enable improved GWAS signal","display_name":"Multi-domain rule-based phenotyping algorithms enable improved GWAS signal","publication_year":2025,"publication_date":"2025-08-02","ids":{"openalex":"https://openalex.org/W4412859815","doi":"https://doi.org/10.1038/s41746-025-01815-8","pmid":"https://pubmed.ncbi.nlm.nih.gov/40753274"},"language":"en","primary_location":{"id":"doi:10.1038/s41746-025-01815-8","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41746-025-01815-8","pdf_url":"https://www.nature.com/articles/s41746-025-01815-8.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-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","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/s41746-025-01815-8.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5119167777","display_name":"Abigail Newbury","orcid":null},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]},{"id":"https://openalex.org/I4210151462","display_name":"New York Genome Center","ror":"https://ror.org/05wf2ga96","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210151462"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Abigail Newbury","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University, New York City, NY, USA","New York Genome Center, New York City, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York City, NY, USA","institution_ids":["https://openalex.org/I78577930"]},{"raw_affiliation_string":"New York Genome Center, New York City, NY, USA","institution_ids":["https://openalex.org/I4210151462"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057869404","display_name":"Ahmed El\u2010Hussein","orcid":"https://orcid.org/0000-0002-6349-3282"},"institutions":[{"id":"https://openalex.org/I4210151462","display_name":"New York Genome Center","ror":"https://ror.org/05wf2ga96","country_code":"US","type":"facility","lineage":["https://openalex.org/I4210151462"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ahmed Elhussein","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University, New York City, NY, USA","New York Genome Center, New York City, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York City, NY, USA","institution_ids":["https://openalex.org/I78577930"]},{"raw_affiliation_string":"New York Genome Center, New York City, NY, USA","institution_ids":["https://openalex.org/I4210151462"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5040793469","display_name":"Gamze G\u00fcrsoy","orcid":"https://orcid.org/0000-0002-1352-8686"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gamze G\u00fcrsoy","raw_affiliation_strings":["Department of Biomedical Informatics, Columbia University, New York City, NY, USA. gamze.gursoy@columbia.edu","Department of Computer Science, Columbia University, New York City, NY, USA. gamze.gursoy@columbia.edu","New York Genome Center, New York City, NY, USA. gamze.gursoy@columbia.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Columbia University, New York City, NY, USA. gamze.gursoy@columbia.edu","institution_ids":[]},{"raw_affiliation_string":"Department of Computer Science, Columbia University, New York City, NY, USA. gamze.gursoy@columbia.edu","institution_ids":[]},{"raw_affiliation_string":"New York Genome Center, New York City, NY, USA. gamze.gursoy@columbia.edu","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5119167777"],"corresponding_institution_ids":["https://openalex.org/I4210151462","https://openalex.org/I78577930"],"apc_list":{"value":3060,"currency":"USD","value_usd":3060},"apc_paid":{"value":3060,"currency":"USD","value_usd":3060},"fwci":7.5642,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.97352834,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":95,"max":99},"biblio":{"volume":"8","issue":"1","first_page":"499","last_page":"499"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9998000264167786,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9998000264167786,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9947999715805054,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.9941999912261963,"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/genome-wide-association-study","display_name":"Genome-wide association study","score":0.6131191253662109},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.5603188872337341},{"id":"https://openalex.org/keywords/algorithm","display_name":"Algorithm","score":0.5354329347610474},{"id":"https://openalex.org/keywords/domain","display_name":"Domain (mathematical analysis)","score":0.4858981966972351},{"id":"https://openalex.org/keywords/signal","display_name":"SIGNAL (programming language)","score":0.41271159052848816},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.39526230096817017},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.1757783591747284},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.13980072736740112},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.08502870798110962}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.6131191253662109},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5603188872337341},{"id":"https://openalex.org/C11413529","wikidata":"https://www.wikidata.org/wiki/Q8366","display_name":"Algorithm","level":1,"score":0.5354329347610474},{"id":"https://openalex.org/C36503486","wikidata":"https://www.wikidata.org/wiki/Q11235244","display_name":"Domain (mathematical analysis)","level":2,"score":0.4858981966972351},{"id":"https://openalex.org/C2779843651","wikidata":"https://www.wikidata.org/wiki/Q7390335","display_name":"SIGNAL (programming language)","level":2,"score":0.41271159052848816},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.39526230096817017},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.1757783591747284},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13980072736740112},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.08502870798110962},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.0},{"id":"https://openalex.org/C134306372","wikidata":"https://www.wikidata.org/wiki/Q7754","display_name":"Mathematical analysis","level":1,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","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}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1038/s41746-025-01815-8","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41746-025-01815-8","pdf_url":"https://www.nature.com/articles/s41746-025-01815-8.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-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Digital Medicine","raw_type":"journal-article"},{"id":"pmid:40753274","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40753274","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:doaj.org/article:4d3ef24daf7549e88fff96b3693c4a25","is_oa":true,"landing_page_url":"https://doaj.org/article/4d3ef24daf7549e88fff96b3693c4a25","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 1-13 (2025)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12318046","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12318046","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"NPJ Digit Med","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1038/s41746-025-01815-8","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41746-025-01815-8","pdf_url":"https://www.nature.com/articles/s41746-025-01815-8.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-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"npj Digital Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.41999998688697815,"id":"https://metadata.un.org/sdg/2","display_name":"Zero hunger"}],"awards":[{"id":"https://openalex.org/G4868304681","display_name":null,"funder_award_id":"R35GM147004","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G5302456934","display_name":null,"funder_award_id":"T15LM007079","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G8763244384","display_name":null,"funder_award_id":"T15LM007079","funder_id":"https://openalex.org/F4320337372","funder_display_name":"U.S. National Library of Medicine"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337372","display_name":"U.S. National Library of Medicine","ror":"https://ror.org/0060t0j89"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4412859815.pdf","grobid_xml":"https://content.openalex.org/works/W4412859815.grobid-xml"},"referenced_works_count":45,"referenced_works":["https://openalex.org/W1969208427","https://openalex.org/W1984068087","https://openalex.org/W2051314902","https://openalex.org/W2102213696","https://openalex.org/W2121382432","https://openalex.org/W2123179625","https://openalex.org/W2130410032","https://openalex.org/W2137767404","https://openalex.org/W2153860431","https://openalex.org/W2157519867","https://openalex.org/W2161633633","https://openalex.org/W2195783463","https://openalex.org/W2474747771","https://openalex.org/W2513408092","https://openalex.org/W2555614465","https://openalex.org/W2593490160","https://openalex.org/W2728065598","https://openalex.org/W2803290558","https://openalex.org/W2883973902","https://openalex.org/W2895486342","https://openalex.org/W2915985519","https://openalex.org/W2944340292","https://openalex.org/W2950099124","https://openalex.org/W2965996113","https://openalex.org/W2973113902","https://openalex.org/W2996271443","https://openalex.org/W3013660197","https://openalex.org/W3015900446","https://openalex.org/W3045441625","https://openalex.org/W3133859624","https://openalex.org/W3186606013","https://openalex.org/W4205170775","https://openalex.org/W4224245136","https://openalex.org/W4226034508","https://openalex.org/W4304991627","https://openalex.org/W4307389553","https://openalex.org/W4318157579","https://openalex.org/W4320933247","https://openalex.org/W4366287755","https://openalex.org/W4367668665","https://openalex.org/W4386034766","https://openalex.org/W4387782515","https://openalex.org/W4389373686","https://openalex.org/W4406459515","https://openalex.org/W6814403689"],"related_works":["https://openalex.org/W2051487156","https://openalex.org/W2073681303","https://openalex.org/W1539935214","https://openalex.org/W4390666975","https://openalex.org/W1864400744","https://openalex.org/W4409439182","https://openalex.org/W2736520836","https://openalex.org/W3093265873","https://openalex.org/W3209211130","https://openalex.org/W1966248182"],"abstract_inverted_index":{"Biobanks":[0],"are":[1,45],"a":[2],"rich":[3],"source":[4],"of":[5,76],"data":[6,15,21,53,59,148],"for":[7,48],"genome-wide":[8],"association":[9],"studies":[10],"(GWAS).":[11],"They":[12],"store":[13],"clinical":[14],"from":[16,39,142],"electronic":[17],"health":[18],"records,":[19],"with":[20,129],"domains":[22,60],"such":[23,86],"as":[24,87],"laboratory":[25],"measurements,":[26],"conditions,":[27],"and":[28,68,93,123,127],"self-reported":[29],"diagnoses.":[30],"Traditionally,":[31],"biobank":[32],"GWAS":[33,69,82,115,139],"utilize":[34],"case-control":[35],"cohorts":[36],"built":[37],"exclusively":[38],"conditions.":[40],"However,":[41],"because":[42],"reported":[43],"conditions":[44],"primarily":[46],"collected":[47],"billing":[49],"purposes,":[50],"they":[51],"face":[52],"quality":[54],"issues.":[55],"Consequently,":[56],"incorporating":[57],"additional":[58],"in":[61,102],"cohort":[62,66],"construction":[63],"can":[64,140],"improve":[65,114],"accuracy":[67,98],"results.":[70],"Here,":[71],"we":[72],"assess":[73],"the":[74,103],"impact":[75],"various":[77],"rule-based":[78],"phenotyping":[79,111,143],"algorithms":[80,112,144],"on":[81],"outcomes,":[83,116],"examining":[84],"factors":[85],"power,":[88,119],"heritability,":[89],"replicability,":[90],"functional":[91,124],"annotations,":[92],"polygenic":[94],"risk":[95],"score":[96],"prediction":[97],"across":[99],"seven":[100],"diseases":[101],"UK":[104],"Biobank.":[105],"We":[106],"find":[107],"that":[108,137,145],"high":[109],"complexity":[110],"generally":[113],"including":[117],"increased":[118],"hits":[120],"within":[121],"coding":[122],"genomic":[125],"regions,":[126],"co-localization":[128],"expression":[130],"quantitative":[131],"trait":[132],"loci.":[133],"Our":[134],"findings":[135],"suggest":[136],"biobank-scale":[138],"benefit":[141],"integrate":[146],"multiple":[147],"domains.":[149]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":2}],"updated_date":"2026-05-06T08:25:59.206177","created_date":"2025-10-10T00:00:00"}
