{"id":"https://openalex.org/W7204164172","doi":"https://doi.org/10.34108/eujhs.1834646","title":"Prediction of FMF Symptoms with Deep Learning Using Genetic Mutations and Clinical Findings","display_name":"Prediction of FMF Symptoms with Deep Learning Using Genetic Mutations and Clinical Findings","publication_year":2026,"publication_date":"2026-08-25","ids":{"openalex":"https://openalex.org/W7204164172","doi":"https://doi.org/10.34108/eujhs.1834646"},"language":"tr","primary_location":{"id":"doi:10.34108/eujhs.1834646","doi":"https://doi.org/10.34108/eujhs.1834646","is_oa":true,"landing_page_url":"https://doi.org/10.34108/eujhs.1834646","pdf_url":"https://dergipark.org.tr/en/download/article-file/5471578","source":{"id":"https://openalex.org/S4210213491","display_name":"Sa\u011fl\u0131k Bilimleri Dergisi","issn_l":"1018-3655","issn":["1018-3655"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Sa\u011fl\u0131k Bilimleri Dergisi","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://dergipark.org.tr/en/download/article-file/5471578","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103285216","display_name":"Ali Osman Arslan","orcid":"https://orcid.org/0000-0002-5711-0038","observed_orcids":["https://orcid.org/0000-0002-5711-0038"]},"institutions":[{"id":"https://openalex.org/I76973811","display_name":"Bolu Abant \u0130zzet Baysal University","ror":"https://ror.org/01x1kqx83","country_code":"TR","type":"education","lineage":["https://openalex.org/I76973811"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Ali Osman Arslan","raw_affiliation_strings":["BOLU ABANT \u0130ZZET BAYSAL \u00dcN\u0130VERS\u0130TES\u0130, TIP FAK\u00dcLTES\u0130, TEMEL TIP B\u0130L\u0130MLER\u0130 B\u00d6L\u00dcM\u00dc, TIBB\u0130 B\u0130YOLOJ\u0130 ANAB\u0130L\u0130M DALI"],"raw_orcid":"https://orcid.org/0000-0002-5711-0038","affiliations":[{"raw_affiliation_string":"BOLU ABANT \u0130ZZET BAYSAL \u00dcN\u0130VERS\u0130TES\u0130, TIP FAK\u00dcLTES\u0130, TEMEL TIP B\u0130L\u0130MLER\u0130 B\u00d6L\u00dcM\u00dc, TIBB\u0130 B\u0130YOLOJ\u0130 ANAB\u0130L\u0130M DALI","institution_ids":["https://openalex.org/I76973811"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088176340","display_name":"Selma D\u00fczenli","orcid":"https://orcid.org/0000-0001-9589-4091","observed_orcids":["https://orcid.org/0000-0001-9589-4091"]},"institutions":[{"id":"https://openalex.org/I76973811","display_name":"Bolu Abant \u0130zzet Baysal University","ror":"https://ror.org/01x1kqx83","country_code":"TR","type":"education","lineage":["https://openalex.org/I76973811"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Selma D\u00fczenli","raw_affiliation_strings":["BOLU ABANT \u0130ZZET BAYSAL \u00dcN\u0130VERS\u0130TES\u0130"],"raw_orcid":"https://orcid.org/0000-0001-9589-4091","affiliations":[{"raw_affiliation_string":"BOLU ABANT \u0130ZZET BAYSAL \u00dcN\u0130VERS\u0130TES\u0130","institution_ids":["https://openalex.org/I76973811"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018247137","display_name":"G\u00fcven Ak\u00e7ay","orcid":"https://orcid.org/0000-0003-3418-8825","observed_orcids":["https://orcid.org/0000-0003-3418-8825"]},"institutions":[{"id":"https://openalex.org/I76973811","display_name":"Bolu Abant \u0130zzet Baysal University","ror":"https://ror.org/01x1kqx83","country_code":"TR","type":"education","lineage":["https://openalex.org/I76973811"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"G\u00fcven Ak\u00e7ay","raw_affiliation_strings":["BOLU ABANT \u0130ZZET BAYSAL \u00dcN\u0130VERS\u0130TES\u0130"],"raw_orcid":"https://orcid.org/0000-0003-3418-8825","affiliations":[{"raw_affiliation_string":"BOLU ABANT \u0130ZZET BAYSAL \u00dcN\u0130VERS\u0130TES\u0130","institution_ids":["https://openalex.org/I76973811"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5065951587","display_name":"Meryem Yal\u00e7\u0131nkaya","orcid":"https://orcid.org/0000-0003-4255-5656","observed_orcids":["https://orcid.org/0000-0003-4255-5656"]},"institutions":[{"id":"https://openalex.org/I2799360972","display_name":"Hitit \u00dcniversitesi","ror":"https://ror.org/01x8m3269","country_code":"TR","type":"education","lineage":["https://openalex.org/I2799360972"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Meryem Yal\u00e7\u0131nkaya","raw_affiliation_strings":["H\u0130T\u0130T \u00dcN\u0130VERS\u0130TES\u0130"],"raw_orcid":"https://orcid.org/0000-0003-4255-5656","affiliations":[{"raw_affiliation_string":"H\u0130T\u0130T \u00dcN\u0130VERS\u0130TES\u0130","institution_ids":["https://openalex.org/I2799360972"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5103285216"],"corresponding_institution_ids":["https://openalex.org/I76973811"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"35","issue":"2","first_page":"413","last_page":"426"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.9854000210762024,"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/T11078","display_name":"Inflammasome and immune disorders","score":0.9854000210762024,"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":0.006200000178068876,"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/T11396","display_name":"Artificial Intelligence in Healthcare","score":0.00139999995008111,"subfield":{"id":"https://openalex.org/subfields/3605","display_name":"Health Information Management"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/familial-mediterranean-fever","display_name":"familial Mediterranean fever","score":0.8880000114440918},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9549999833106995},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.8450000286102295},{"id":"https://openalex.org/keywords/symptom-prediction","display_name":"symptom prediction","score":0.9169999957084656},{"id":"https://openalex.org/keywords/autoinflammatory-disease","display_name":"autoinflammatory disease","score":0.9020000100135803},{"id":"https://openalex.org/keywords/skin-rash","display_name":"rash","score":0.6549999713897705},{"id":"https://openalex.org/keywords/joint-swelling","display_name":"joint swelling","score":0.9679999947547913},{"id":"https://openalex.org/keywords/chest-pain","display_name":"chest pain","score":0.9549999833106995},{"id":"https://openalex.org/keywords/smote","display_name":"SMOTE","score":0.6150000095367432},{"id":"https://openalex.org/keywords/class-imbalance","display_name":"class imbalance","score":0.6690000295639038},{"id":"https://openalex.org/keywords/convolutional-neural-networks","display_name":"convolutional neural networks","score":0.8610000014305115},{"id":"https://openalex.org/keywords/multi-head-attention","display_name":"multi-head attention","score":0.8610000014305115},{"id":"https://openalex.org/keywords/residual-blocks","display_name":"residual blocks","score":0.656000018119812}],"concepts":[{"id":"https://openalex.org/C2779537928","wikidata":"https://www.wikidata.org/wiki/Q1144618","display_name":"Familial Mediterranean fever","level":3,"score":0.9266999959945679},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7163000106811523},{"id":"https://openalex.org/C108583219","wikidata":"https://www.wikidata.org/wiki/Q197536","display_name":"Deep learning","level":2,"score":0.5896999835968018},{"id":"https://openalex.org/C2780955771","wikidata":"https://www.wikidata.org/wiki/Q183425","display_name":"Abdominal pain","level":2,"score":0.503600001335144},{"id":"https://openalex.org/C2781145326","wikidata":"https://www.wikidata.org/wiki/Q14881867","display_name":"MEFV","level":5,"score":0.4749000072479248},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.44130000472068787},{"id":"https://openalex.org/C58471807","wikidata":"https://www.wikidata.org/wiki/Q327120","display_name":"Receiver operating characteristic","level":2,"score":0.42579999566078186},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.41280001401901245},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.3788999915122986},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.37770000100135803},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.37139999866485596},{"id":"https://openalex.org/C76318530","wikidata":"https://www.wikidata.org/wiki/Q16833590","display_name":"Area under the curve","level":2,"score":0.3407999873161316},{"id":"https://openalex.org/C2776237595","wikidata":"https://www.wikidata.org/wiki/Q683498","display_name":"Joint pain","level":2,"score":0.32679998874664307},{"id":"https://openalex.org/C45804977","wikidata":"https://www.wikidata.org/wiki/Q7239673","display_name":"Predictive modelling","level":2,"score":0.31859999895095825},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.30309998989105225},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.27149999141693115},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.27140000462532043},{"id":"https://openalex.org/C81363708","wikidata":"https://www.wikidata.org/wiki/Q17084460","display_name":"Convolutional neural network","level":2,"score":0.2623000144958496}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.34108/eujhs.1834646","doi":"https://doi.org/10.34108/eujhs.1834646","is_oa":true,"landing_page_url":"https://doi.org/10.34108/eujhs.1834646","pdf_url":"https://dergipark.org.tr/en/download/article-file/5471578","source":{"id":"https://openalex.org/S4210213491","display_name":"Sa\u011fl\u0131k Bilimleri Dergisi","issn_l":"1018-3655","issn":["1018-3655"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Sa\u011fl\u0131k Bilimleri Dergisi","raw_type":"journal-article"},{"id":"pmh:oai:dergipark.org.tr:article/1834646","doi":null,"is_oa":true,"landing_page_url":"https://dergipark.org.tr/en/pub/eujhs/article/1834646","pdf_url":null,"source":{"id":"https://openalex.org/S4210213491","display_name":"Sa\u011fl\u0131k Bilimleri Dergisi","issn_l":"1018-3655","issn":["1018-3655"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Sa\u011fl\u0131k Bilimleri Dergisi, Vol. 35 No. 2","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.34108/eujhs.1834646","doi":"https://doi.org/10.34108/eujhs.1834646","is_oa":true,"landing_page_url":"https://doi.org/10.34108/eujhs.1834646","pdf_url":"https://dergipark.org.tr/en/download/article-file/5471578","source":{"id":"https://openalex.org/S4210213491","display_name":"Sa\u011fl\u0131k Bilimleri Dergisi","issn_l":"1018-3655","issn":["1018-3655"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Sa\u011fl\u0131k Bilimleri Dergisi","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7204164172.pdf","grobid_xml":"https://content.openalex.org/works/W7204164172.grobid-xml"},"referenced_works_count":41,"referenced_works":["https://openalex.org/W2145339207","https://openalex.org/W2610767935","https://openalex.org/W2784246882","https://openalex.org/W2896827570","https://openalex.org/W2907683930","https://openalex.org/W2910107245","https://openalex.org/W2940679238","https://openalex.org/W2943135507","https://openalex.org/W2965633761","https://openalex.org/W2990290777","https://openalex.org/W2993131614","https://openalex.org/W3004922256","https://openalex.org/W3040586043","https://openalex.org/W3081214708","https://openalex.org/W3109082142","https://openalex.org/W3118630218","https://openalex.org/W3137858323","https://openalex.org/W3170898378","https://openalex.org/W3204312334","https://openalex.org/W4210797262","https://openalex.org/W4214726436","https://openalex.org/W4214883301","https://openalex.org/W4224295565","https://openalex.org/W4229691670","https://openalex.org/W4283703193","https://openalex.org/W4290758981","https://openalex.org/W4295083527","https://openalex.org/W4309721814","https://openalex.org/W4379056811","https://openalex.org/W4384928439","https://openalex.org/W4386417162","https://openalex.org/W4390401074","https://openalex.org/W4390516629","https://openalex.org/W4391232925","https://openalex.org/W4392169238","https://openalex.org/W4392919279","https://openalex.org/W4393222057","https://openalex.org/W4400918653","https://openalex.org/W4401900462","https://openalex.org/W4405351251","https://openalex.org/W4413909640"],"related_works":["https://openalex.org/W1980261719","https://openalex.org/W2136915050","https://openalex.org/W2236114219","https://openalex.org/W7158604316","https://openalex.org/W4379796391","https://openalex.org/W3204586592","https://openalex.org/W4411687536","https://openalex.org/W7096308642","https://openalex.org/W3010782262","https://openalex.org/W2088040350"],"abstract_inverted_index":{"Familial":[0,46,80,234,265],"Mediterranean":[1,47,81,235,266],"Fever":[2,48,82,236,267],"is":[3],"a":[4,24,242],"hereditary":[5],"autoinflammatory":[6],"disorder":[7],"characterized":[8],"by":[9,49,251],"recurrent":[10],"episodes":[11],"of":[12,67,75,86,248,263],"peritonitis,":[13],"pleuritis,":[14],"arthritis,":[15],"fever,":[16],"and":[17,35,55,70,95,100,113,130,149,167,194,233,254],"abdominal":[18,190],"pain,":[19,191,193],"with":[20,79,140],"genetic":[21,51,231],"mutations":[22,232],"playing":[23],"critical":[25],"role":[26],"in":[27,45,214],"disease":[28],"manifestation":[29],"as":[30,32],"well":[31],"symptom":[33,68,138],"type":[34],"severity.":[36],"This":[37],"study":[38],"aimed":[39],"to":[40,136,226,244,258],"resolve":[41],"the":[42,64,84,146,155,164,174,186,202,228,246,260],"genotype\u2013phenotype":[43,249],"uncertainty":[44],"integrating":[50],"mutations,":[52],"demographic":[53],"characteristics,":[54],"clinical":[56,114,237,261],"data":[57,115],"through":[58],"deep":[59,119,221],"learning":[60,120,222],"methods,":[61],"thereby":[62,256],"enhancing":[63],"predictive":[65,198],"understanding":[66,247],"development":[69],"disease-related":[71],"risks.":[72],"A":[73],"total":[74],"1452":[76],"individuals":[77],"diagnosed":[78],"at":[83],"Department":[85],"Medical":[87],"Genetics,":[88],"Bolu":[89],"Abant":[90],"\u0130zzet":[91],"Baysal":[92],"University":[93],"Training":[94],"Research":[96],"Hospital":[97],"between":[98,230],"2016":[99],"2019":[101],"were":[102,116],"included.":[103],"Genetic":[104],"testing":[105],"was":[106,181],"performed":[107],"via":[108],"Real-Time":[109],"Polymerase":[110],"Chain":[111],"Reaction,":[112],"analyzed":[117],"using":[118,124],"approaches.":[121],"Models":[122],"applied":[123],"convolutional":[125],"neural":[126],"network,":[127],"Residual":[128],"Blocks,":[129],"Multi-Head":[131],"Attention":[132],"showed":[133],"strong":[134,183],"potential":[135,243],"predict":[137],"occurrence":[139],"high":[141],"accuracy;":[142],"specifically,":[143],"they":[144,240],"achieved":[145],"highest":[147],"accuracy":[148],"receiver":[150],"operating":[151],"characteristic":[152],"area":[153],"under":[154],"curve":[156],"for":[157,178,211],"skin":[158],"rash/redness":[159],"(accuracy:":[160,170],"90%,":[161],"Area":[162,172],"Under":[163,173,185,201],"Curve:":[165,175],"0.873)":[166],"joint":[168,192],"swelling":[169],"88.6%,":[171],"0.871).":[176],"Prediction":[177],"chest":[179],"pain":[180],"also":[182],"(Area":[184,200],"Curve":[187,203],"0.827),":[188],"while":[189],"fever":[195],"demonstrated":[196],"moderate":[197],"performance":[199],"0.719\u20130.751).":[204],"Synthetic":[205],"Minority":[206],"Over-sampling":[207],"Technique":[208],"enhanced":[209],"prediction":[210],"rare":[212],"symptoms":[213,253],"imbalanced":[215],"datasets.":[216],"These":[217],"findings":[218],"suggest":[219],"that":[220],"models":[223],"could":[224],"contribute":[225],"clarifying":[227],"relationships":[229],"manifestations;":[238],"furthermore,":[239],"demonstrate":[241],"improve":[245],"correlations":[250],"predicting":[252],"risks,":[255],"helping":[257],"enhance":[259],"utility":[262],"personalized":[264],"management.":[268]},"counts_by_year":[],"updated_date":"2026-11-13T13:42:25.865203","created_date":"2026-08-26T00:00:00"}