{"id":"https://openalex.org/W7153307818","doi":"https://doi.org/10.48550/arxiv.2604.08217","title":"Co-design for Trustworthy AI: An Interpretable and Explainable Tool for Type 2 Diabetes Prediction Using Genomic Polygenic Risk Scores","display_name":"Co-design for Trustworthy AI: An Interpretable and Explainable Tool for Type 2 Diabetes Prediction Using Genomic Polygenic Risk Scores","publication_year":2026,"publication_date":"2026-04-09","ids":{"openalex":"https://openalex.org/W7153307818","doi":"https://doi.org/10.48550/arxiv.2604.08217"},"language":null,"primary_location":{"id":"doi:10.48550/arxiv.2604.08217","is_oa":true,"landing_page_url":"https://doi.org/10.48550/arxiv.2604.08217","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":"article"},"type":"preprint","indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.48550/arxiv.2604.08217","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5133353636","display_name":"Ralf Beuthan","orcid":null},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Beuthan, Ralf","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004271884","display_name":"Megan Coffee","orcid":"https://orcid.org/0000-0002-4581-111X"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Coffee, Megan","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5133341999","display_name":"Heejin Kim","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kim, Heejin","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5133334888","display_name":"Na Yeon Kim","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kim, Na Yeon","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052558876","display_name":"Pedro Kringen","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kringen, Pedro","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016669171","display_name":"Elisabeth Hildt","orcid":"https://orcid.org/0000-0003-1314-5527"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hildt, Elisabeth","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5121536541","display_name":"Haekyung Lee","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lee, Haekyung","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5133390570","display_name":"Seunggeun Lee","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lee, Seunggeun","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073251847","display_name":"Emilie Wiinblad Mathez","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mathez, Emilie Wiinblad","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5133326357","display_name":"Sira Maliphol","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Maliphol, Sira","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5133372369","display_name":"Vadim Pak","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pak, Vadim","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5133387486","display_name":"Yuna Park","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Park, Yuna","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007156938","display_name":"Stephan Sonnenberg","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sonnenberg, Stephan","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026593207","display_name":"Jesmin Jahan Tithi","orcid":"https://orcid.org/0000-0002-2861-8393"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tithi, Jesmin Jahan","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112671821","display_name":"Magnus Westerlund","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Westerlund, Magnus","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5028019884","display_name":"Roberto V. Zicari","orcid":"https://orcid.org/0000-0003-2792-9162"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Zicari, Roberto V.","raw_affiliation_strings":[],"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":16,"corresponding_author_ids":["https://openalex.org/A5133353636"],"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/T12026","display_name":"Explainable Artificial Intelligence (XAI)","score":0.35920000076293945,"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"}},"topics":[{"id":"https://openalex.org/T12026","display_name":"Explainable Artificial Intelligence (XAI)","score":0.35920000076293945,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.3124000132083893,"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/T10769","display_name":"BRCA gene mutations in cancer","score":0.10029999911785126,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/interpretability","display_name":"Interpretability","score":0.8914999961853027},{"id":"https://openalex.org/keywords/multidisciplinary-approach","display_name":"Multidisciplinary approach","score":0.6085000038146973},{"id":"https://openalex.org/keywords/trustworthiness","display_name":"Trustworthiness","score":0.5142999887466431},{"id":"https://openalex.org/keywords/psychological-intervention","display_name":"Psychological intervention","score":0.4839000105857849},{"id":"https://openalex.org/keywords/set","display_name":"Set (abstract data type)","score":0.4758000075817108},{"id":"https://openalex.org/keywords/robustness","display_name":"Robustness (evolution)","score":0.46070000529289246},{"id":"https://openalex.org/keywords/personalized-medicine","display_name":"Personalized medicine","score":0.44020000100135803},{"id":"https://openalex.org/keywords/confidentiality","display_name":"Confidentiality","score":0.42239999771118164}],"concepts":[{"id":"https://openalex.org/C2781067378","wikidata":"https://www.wikidata.org/wiki/Q17027399","display_name":"Interpretability","level":2,"score":0.8914999961853027},{"id":"https://openalex.org/C22467394","wikidata":"https://www.wikidata.org/wiki/Q849359","display_name":"Multidisciplinary approach","level":2,"score":0.6085000038146973},{"id":"https://openalex.org/C153701036","wikidata":"https://www.wikidata.org/wiki/Q659974","display_name":"Trustworthiness","level":2,"score":0.5142999887466431},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.5008999705314636},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.4984999895095825},{"id":"https://openalex.org/C27415008","wikidata":"https://www.wikidata.org/wiki/Q7256382","display_name":"Psychological intervention","level":2,"score":0.4839000105857849},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.4758000075817108},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.4690000116825104},{"id":"https://openalex.org/C63479239","wikidata":"https://www.wikidata.org/wiki/Q7353546","display_name":"Robustness (evolution)","level":3,"score":0.46070000529289246},{"id":"https://openalex.org/C32220436","wikidata":"https://www.wikidata.org/wiki/Q2072214","display_name":"Personalized medicine","level":2,"score":0.44020000100135803},{"id":"https://openalex.org/C71745522","wikidata":"https://www.wikidata.org/wiki/Q2476929","display_name":"Confidentiality","level":2,"score":0.42239999771118164},{"id":"https://openalex.org/C36464697","wikidata":"https://www.wikidata.org/wiki/Q451553","display_name":"Visualization","level":2,"score":0.4092999994754791},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.4009000062942505},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.3919999897480011},{"id":"https://openalex.org/C2777180221","wikidata":"https://www.wikidata.org/wiki/Q3025883","display_name":"Type 2 diabetes","level":3,"score":0.3504999876022339},{"id":"https://openalex.org/C2910068830","wikidata":"https://www.wikidata.org/wiki/Q3025883","display_name":"Type 2 Diabetes Mellitus","level":3,"score":0.3481000065803528},{"id":"https://openalex.org/C12174686","wikidata":"https://www.wikidata.org/wiki/Q1058438","display_name":"Risk assessment","level":2,"score":0.32170000672340393},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.3093000054359436},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.30660000443458557},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.29980000853538513},{"id":"https://openalex.org/C112930515","wikidata":"https://www.wikidata.org/wiki/Q4389547","display_name":"Risk analysis (engineering)","level":1,"score":0.29280000925064087},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.28360000252723694},{"id":"https://openalex.org/C98108635","wikidata":"https://www.wikidata.org/wiki/Q6497275","display_name":"Phenomics","level":5,"score":0.28279998898506165},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.28200000524520874},{"id":"https://openalex.org/C138958017","wikidata":"https://www.wikidata.org/wiki/Q190087","display_name":"Data type","level":2,"score":0.2694000005722046},{"id":"https://openalex.org/C197352329","wikidata":"https://www.wikidata.org/wiki/Q1093434","display_name":"Citizen science","level":2,"score":0.267300009727478},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.2637999951839447}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.48550/arxiv.2604.08217","is_oa":true,"landing_page_url":"https://doi.org/10.48550/arxiv.2604.08217","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":"article"}],"best_oa_location":{"id":"doi:10.48550/arxiv.2604.08217","is_oa":true,"landing_page_url":"https://doi.org/10.48550/arxiv.2604.08217","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":"article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/16","display_name":"Peace, Justice and strong institutions","score":0.533095121383667}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":[],"abstract_inverted_index":{"The":[0,194,243],"polygenic":[1],"risk":[2,131],"scores":[3,114],"(PRS)":[4],"have":[5,41],"emerged":[6],"as":[7,32,228],"an":[8,129,162],"important":[9],"methodology":[10],"for":[11,61,83,185,231,250,255],"quantifying":[12],"genetic":[13,65,126],"predisposition":[14],"to":[15,29,138,233],"complex":[16],"traits":[17],"and":[18,35,58,109,147,153,169,178,206,225,239],"clinical":[19,155,259],"disease.":[20],"Significant":[21],"progress":[22],"has":[23],"been":[24],"made":[25],"in":[26,257],"applying":[27],"PRS":[28,44,100,256],"conditions":[30],"such":[31],"obesity,":[33],"cancer,":[34],"type":[36],"2":[37],"diabetes":[38],"(T2DM).":[39],"Studies":[40],"demonstrated":[42],"that":[43],"can":[45],"effectively":[46],"identify":[47],"individuals":[48],"at":[49,86,93],"high":[50],"risk,":[51],"thereby":[52],"enabling":[53],"early":[54,151],"screening,":[55],"personalized":[56],"treatment,":[57],"targeted":[59],"interventions":[60],"diseases":[62],"with":[63,237],"a":[64,135,200,214,229,247],"predisposition.":[66],"One":[67],"current":[68],"limitation":[69],"of":[70,76,90,173,181,190,196,203,217],"PRS,":[71],"however,":[72],"is":[73],"the":[74,87,94,124,171,179],"lack":[75],"interpretability":[77],"tools.":[78],"To":[79],"address":[80],"this":[81,197,238],"problem":[82],"T2DM,":[84],"researchers":[85,251],"Graduate":[88],"School":[89],"Data":[91],"Science":[92],"Seoul":[95],"National":[96],"University":[97],"introduced":[98],"eXplainable":[99],"(XPRS).":[101],"This":[102],"visualization":[103],"tool":[104],"decomposes":[105],"PRSs":[106],"into":[107,123],"gene-level":[108],"single-nucleotide":[110],"polymorphism":[111],"(SNP)":[112],"contribution":[113],"via":[115],"Shapley":[116],"Additive":[117],"Explanations":[118],"(SHAP),":[119],"providing":[120],"granular":[121],"insights":[122],"specific":[125],"factors":[127],"driving":[128],"individual's":[130],"profile.":[132],"We":[133],"used":[134,160],"co-design":[136,167],"approach":[137],"assess":[139],"XPRS":[140],"trustworthiness":[141],"by":[142,213],"considering":[143],"legal,":[144,205,220],"medical,":[145],"ethical,":[146,204],"technical":[148,207],"robustness":[149],"during":[150],"design":[152],"potential":[154],"use.":[156],"For":[157],"that,":[158],"we":[159],"Z-inspection,":[161],"ethically":[163],"aligned":[164],"Trustworthy":[165],"AI":[166,186,241],"methodology,":[168],"piloted":[170],"Council":[172],"Europe's":[174],"Human":[175],"Rights,":[176],"Democracy,":[177],"Rule":[180],"Law":[182],"Impact":[183],"Assessment":[184],"Systems":[187],"(HUDERIA)":[188],"(Council":[189],"Europe":[191],"(CAI)":[192],"2025).":[193],"findings":[195,244],"use-case":[198],"comprise":[199],"comprehensive":[201],"set":[202],"lessons":[208],"learned.":[209],"These":[210],"insights,":[211],"identified":[212],"multidisciplinary":[215],"team":[216],"experts":[218],"(ethics,":[219],"human":[221],"rights,":[222],"computer":[223],"science,":[224],"medical),":[226],"serve":[227],"framework":[230],"designers":[232],"navigate":[234],"future":[235],"challenges":[236],"other":[240],"systems.":[242],"also":[245],"provide":[246],"useful":[248],"reference":[249],"developing":[252],"explainability":[253],"frameworks":[254],"diverse":[258],"contexts.":[260]},"counts_by_year":[],"updated_date":"2026-04-11T06:19:08.300824","created_date":"2026-04-11T00:00:00"}
