{"id":"https://openalex.org/W7128363740","doi":"https://doi.org/10.48550/arxiv.2602.06282","title":"An Interpretable Vision Transformer as a Fingerprint-Based Diagnostic Aid for Kabuki and Wiedemann-Steiner Syndromes","display_name":"An Interpretable Vision Transformer as a Fingerprint-Based Diagnostic Aid for Kabuki and Wiedemann-Steiner Syndromes","publication_year":2026,"publication_date":"2026-02-06","ids":{"openalex":"https://openalex.org/W7128363740","doi":"https://doi.org/10.48550/arxiv.2602.06282"},"language":null,"primary_location":{"id":"pmh:doi:10.48550/arxiv.2602.06282","is_oa":true,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4406922384","display_name":"Open MIND","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":"publisher-specific-oa","license_id":"https://openalex.org/licenses/publisher-specific-oa","version":"submittedVersion","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":null,"any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5125426255","display_name":"Marilyn Lionts","orcid":null},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Lionts, Marilyn","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107992034","display_name":"Arnhildur Tomasdottir","orcid":"https://orcid.org/0009-0008-6154-7612"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tomasdottir, Arnhildur","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5106363999","display_name":"Viktor Ingi Agustsson","orcid":"https://orcid.org/0009-0003-3368-2108"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Agustsson, Viktor I.","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111197444","display_name":"Yuankai Z Huo","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Huo, Yuankai","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038134557","display_name":"Hans T. Bj\u00f6rnsson","orcid":"https://orcid.org/0000-0001-6635-6753"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bjornsson, Hans T.","raw_affiliation_strings":[],"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5089094126","display_name":"Lotta M. Ellingsen","orcid":"https://orcid.org/0000-0003-2139-0979"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ellingsen, Lotta M.","raw_affiliation_strings":[],"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5125426255"],"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/T11642","display_name":"Genomics and Rare Diseases","score":0.7570000290870667,"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":0.7570000290870667,"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":0.09470000118017197,"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/T14333","display_name":"Dermatoglyphics and Human Traits","score":0.061400000005960464,"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/kabuki-syndrome","display_name":"Kabuki syndrome","score":0.7276999950408936},{"id":"https://openalex.org/keywords/kabuki","display_name":"Kabuki","score":0.6496999859809875},{"id":"https://openalex.org/keywords/binary-classification","display_name":"Binary classification","score":0.4607999920845032},{"id":"https://openalex.org/keywords/gold-standard","display_name":"Gold standard (test)","score":0.41190001368522644},{"id":"https://openalex.org/keywords/salient","display_name":"Salient","score":0.4011000096797943},{"id":"https://openalex.org/keywords/fingerprint","display_name":"Fingerprint (computing)","score":0.3856000006198883}],"concepts":[{"id":"https://openalex.org/C2776672705","wikidata":"https://www.wikidata.org/wiki/Q1538227","display_name":"Kabuki syndrome","level":2,"score":0.7276999950408936},{"id":"https://openalex.org/C2776284039","wikidata":"https://www.wikidata.org/wiki/Q199701","display_name":"Kabuki","level":2,"score":0.6496999859809875},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.600600004196167},{"id":"https://openalex.org/C66905080","wikidata":"https://www.wikidata.org/wiki/Q17005494","display_name":"Binary classification","level":3,"score":0.4607999920845032},{"id":"https://openalex.org/C40993552","wikidata":"https://www.wikidata.org/wiki/Q514654","display_name":"Gold standard (test)","level":2,"score":0.41190001368522644},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.4108000099658966},{"id":"https://openalex.org/C2780719617","wikidata":"https://www.wikidata.org/wiki/Q1030752","display_name":"Salient","level":2,"score":0.4011000096797943},{"id":"https://openalex.org/C2777826928","wikidata":"https://www.wikidata.org/wiki/Q3745713","display_name":"Fingerprint (computing)","level":2,"score":0.3856000006198883},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3831000030040741},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.38019999861717224},{"id":"https://openalex.org/C82157600","wikidata":"https://www.wikidata.org/wiki/Q2671652","display_name":"Diagnostic test","level":2,"score":0.3785000145435333},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3779999911785126},{"id":"https://openalex.org/C55282118","wikidata":"https://www.wikidata.org/wiki/Q252683","display_name":"Snapshot (computer storage)","level":2,"score":0.36970001459121704},{"id":"https://openalex.org/C3020132585","wikidata":"https://www.wikidata.org/wiki/Q2671652","display_name":"Diagnostic accuracy","level":2,"score":0.3043999969959259},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.29580000042915344},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.2547999918460846}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:doi:10.48550/arxiv.2602.06282","is_oa":true,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4406922384","display_name":"Open MIND","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":"publisher-specific-oa","license_id":"https://openalex.org/licenses/publisher-specific-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"doi:10.48550/arxiv.2602.06282","is_oa":true,"landing_page_url":"https://doi.org/10.48550/arxiv.2602.06282","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":"pmh:doi:10.48550/arxiv.2602.06282","is_oa":true,"landing_page_url":null,"pdf_url":null,"source":{"id":"https://openalex.org/S4406922384","display_name":"Open MIND","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":"publisher-specific-oa","license_id":"https://openalex.org/licenses/publisher-specific-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":[],"abstract_inverted_index":{"Kabuki":[0],"syndrome":[1,5],"(KS)":[2],"and":[3,23,53,94,99,131,143,187],"Wiedemann-Steiner":[4],"(WSS)":[6],"are":[7],"rare":[8],"but":[9],"distinct":[10],"developmental":[11],"disorders":[12],"that":[13,85],"share":[14],"overlapping":[15],"clinical":[16],"features,":[17,172],"including":[18],"neurodevelopmental":[19],"delay,":[20],"growth":[21],"restriction,":[22],"persistent":[24],"fetal":[25],"fingertip":[26],"pads.":[27],"While":[28],"genetic":[29,51,63,198],"testing":[30,52],"remains":[31],"the":[32,71,113,117,167,174,193],"diagnostic":[33,68,190],"gold":[34],"standard,":[35],"many":[36],"individuals":[37,91],"with":[38,92,136],"KS":[39,93],"or":[40],"WSS":[41,95],"remain":[42,65],"undiagnosed":[43],"due":[44],"to":[45,49,89,152,158],"barriers":[46],"in":[47,70],"access":[48],"both":[50],"expertise.":[54],"Dermatoglyphic":[55],"anomalies,":[56],"despite":[57],"being":[58],"established":[59],"hallmarks":[60],"of":[61,73,122,140,169,176,196],"several":[62],"syndromes,":[64],"an":[66],"underutilized":[67],"signal":[69],"era":[72],"molecular":[74],"testing.":[75],"This":[76],"study":[77],"presents":[78],"a":[79,177,184],"vision":[80],"transformer-based":[81],"deep":[82],"learning":[83],"model":[84,105,118,159],"leverages":[86],"fingerprint":[87,154,171],"images":[88],"distinguish":[90],"from":[96,100],"unaffected":[97],"controls":[98],"one":[101],"another.":[102],"We":[103],"evaluate":[104],"performance":[106],"across":[107],"three":[108,114],"binary":[109],"classification":[110,115],"tasks.":[111],"Across":[112],"tasks,":[116],"achieved":[119],"AUC":[120],"scores":[121,139],"0.80":[123],"(control":[124,128],"vs.":[125,129,134],"KS),":[126],"0.73":[127],"WSS),":[130,135],"0.85":[132],"(KS":[133],"corresponding":[137],"F1":[138],"0.71,":[141],"0.72,":[142],"0.83,":[144],"respectively.":[145],"Beyond":[146],"classification,":[147],"we":[148],"apply":[149],"attention-based":[150],"visualizations":[151],"identify":[153],"regions":[155],"most":[156],"salient":[157],"predictions,":[160],"enhancing":[161],"interpretability.":[162],"Together,":[163],"these":[164],"findings":[165],"suggest":[166],"presence":[168],"syndrome-specific":[170],"demonstrating":[173],"feasibility":[175],"fingerprint-based":[178],"artificial":[179],"intelligence":[180],"(AI)":[181],"tool":[182],"as":[183],"noninvasive,":[185],"interpretable,":[186],"accessible":[188],"future":[189],"aid":[191],"for":[192],"early":[194],"diagnosis":[195],"underdiagnosed":[197],"syndromes.":[199]},"counts_by_year":[],"updated_date":"2026-04-04T16:13:02.066488","created_date":"2026-02-10T00:00:00"}
