{"id":"https://openalex.org/W4377091950","doi":"https://doi.org/10.3233/shti230312","title":"Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders","display_name":"Few-Shot Meta-Learning for Recognizing Facial Phenotypes of Genetic Disorders","publication_year":2023,"publication_date":"2023-05-18","ids":{"openalex":"https://openalex.org/W4377091950","doi":"https://doi.org/10.3233/shti230312","pmid":"https://pubmed.ncbi.nlm.nih.gov/37203539"},"language":"en","primary_location":{"id":"doi:10.3233/shti230312","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti230312","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI230312","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":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI230312","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087336589","display_name":"\u00d6mer S\u00fcmer","orcid":"https://orcid.org/0000-0003-1308-3960"},"institutions":[{"id":"https://openalex.org/I179225836","display_name":"University of Augsburg","ror":"https://ror.org/03p14d497","country_code":"DE","type":"education","lineage":["https://openalex.org/I179225836"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"\u00d6mer S\u00fcmer","raw_affiliation_strings":["Chair for Human-Centered Artificial Intelligence, University of Augsburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Chair for Human-Centered Artificial Intelligence, University of Augsburg, Germany","institution_ids":["https://openalex.org/I179225836"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090491669","display_name":"Fabio Hellmann","orcid":"https://orcid.org/0000-0001-6404-0827"},"institutions":[{"id":"https://openalex.org/I179225836","display_name":"University of Augsburg","ror":"https://ror.org/03p14d497","country_code":"DE","type":"education","lineage":["https://openalex.org/I179225836"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Fabio Hellmann","raw_affiliation_strings":["Chair for Human-Centered Artificial Intelligence, University of Augsburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Chair for Human-Centered Artificial Intelligence, University of Augsburg, Germany","institution_ids":["https://openalex.org/I179225836"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061639312","display_name":"Alexander Hustinx","orcid":"https://orcid.org/0000-0003-4592-3979"},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Alexander Hustinx","raw_affiliation_strings":["Institute for Genomic Statistics and Bioinformatics, University of Bonn, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Genomic Statistics and Bioinformatics, University of Bonn, Germany","institution_ids":["https://openalex.org/I135140700"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066913932","display_name":"Tzung\u2010Chien Hsieh","orcid":"https://orcid.org/0000-0003-3828-4419"},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Tzung-Chien Hsieh","raw_affiliation_strings":["Institute for Genomic Statistics and Bioinformatics, University of Bonn, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Genomic Statistics and Bioinformatics, University of Bonn, Germany","institution_ids":["https://openalex.org/I135140700"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056684559","display_name":"Elisabeth Andr\u00e9","orcid":"https://orcid.org/0000-0002-2367-162X"},"institutions":[{"id":"https://openalex.org/I179225836","display_name":"University of Augsburg","ror":"https://ror.org/03p14d497","country_code":"DE","type":"education","lineage":["https://openalex.org/I179225836"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Elisabeth Andr\u00e9","raw_affiliation_strings":["Chair for Human-Centered Artificial Intelligence, University of Augsburg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Chair for Human-Centered Artificial Intelligence, University of Augsburg, Germany","institution_ids":["https://openalex.org/I179225836"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5013713722","display_name":"Peter Krawitz","orcid":"https://orcid.org/0000-0002-3194-8625"},"institutions":[{"id":"https://openalex.org/I135140700","display_name":"University of Bonn","ror":"https://ror.org/041nas322","country_code":"DE","type":"education","lineage":["https://openalex.org/I135140700"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter Krawitz","raw_affiliation_strings":["Institute for Genomic Statistics and Bioinformatics, University of Bonn, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Genomic Statistics and Bioinformatics, University of Bonn, Germany","institution_ids":["https://openalex.org/I135140700"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5087336589"],"corresponding_institution_ids":["https://openalex.org/I179225836"],"apc_list":null,"apc_paid":null,"fwci":8.9912,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.984375,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":91,"max":97},"biblio":{"volume":"302","issue":null,"first_page":"932","last_page":"936"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10515","display_name":"Cancer-related molecular mechanisms research","score":0.9581999778747559,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T10515","display_name":"Cancer-related molecular mechanisms research","score":0.9581999778747559,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T11307","display_name":"Domain Adaptation and Few-Shot Learning","score":0.955299973487854,"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/T12647","display_name":"Traditional Chinese Medicine Studies","score":0.9545000195503235,"subfield":{"id":"https://openalex.org/subfields/2707","display_name":"Complementary and alternative medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.7592577934265137},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.7414343953132629},{"id":"https://openalex.org/keywords/generalization","display_name":"Generalization","score":0.6428269147872925},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.5937040448188782},{"id":"https://openalex.org/keywords/task","display_name":"Task (project management)","score":0.4956854581832886},{"id":"https://openalex.org/keywords/feature","display_name":"Feature (linguistics)","score":0.49302956461906433},{"id":"https://openalex.org/keywords/pattern-recognition","display_name":"Pattern recognition (psychology)","score":0.4727162718772888},{"id":"https://openalex.org/keywords/similarity","display_name":"Similarity (geometry)","score":0.4603222906589508},{"id":"https://openalex.org/keywords/representation","display_name":"Representation (politics)","score":0.4585350453853607},{"id":"https://openalex.org/keywords/meta-learning","display_name":"Meta learning (computer science)","score":0.41664227843284607},{"id":"https://openalex.org/keywords/image","display_name":"Image (mathematics)","score":0.12901082634925842},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.07964280247688293}],"concepts":[{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.7592577934265137},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.7414343953132629},{"id":"https://openalex.org/C177148314","wikidata":"https://www.wikidata.org/wiki/Q170084","display_name":"Generalization","level":2,"score":0.6428269147872925},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.5937040448188782},{"id":"https://openalex.org/C2780451532","wikidata":"https://www.wikidata.org/wiki/Q759676","display_name":"Task (project management)","level":2,"score":0.4956854581832886},{"id":"https://openalex.org/C2776401178","wikidata":"https://www.wikidata.org/wiki/Q12050496","display_name":"Feature (linguistics)","level":2,"score":0.49302956461906433},{"id":"https://openalex.org/C153180895","wikidata":"https://www.wikidata.org/wiki/Q7148389","display_name":"Pattern recognition (psychology)","level":2,"score":0.4727162718772888},{"id":"https://openalex.org/C103278499","wikidata":"https://www.wikidata.org/wiki/Q254465","display_name":"Similarity (geometry)","level":3,"score":0.4603222906589508},{"id":"https://openalex.org/C2776359362","wikidata":"https://www.wikidata.org/wiki/Q2145286","display_name":"Representation (politics)","level":3,"score":0.4585350453853607},{"id":"https://openalex.org/C2781002164","wikidata":"https://www.wikidata.org/wiki/Q6822311","display_name":"Meta learning (computer science)","level":3,"score":0.41664227843284607},{"id":"https://openalex.org/C115961682","wikidata":"https://www.wikidata.org/wiki/Q860623","display_name":"Image (mathematics)","level":2,"score":0.12901082634925842},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.07964280247688293},{"id":"https://openalex.org/C187736073","wikidata":"https://www.wikidata.org/wiki/Q2920921","display_name":"Management","level":1,"score":0.0},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.0},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.0},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"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/C94625758","wikidata":"https://www.wikidata.org/wiki/Q7163","display_name":"Politics","level":2,"score":0.0},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D003936","descriptor_name":"Diagnosis, Computer-Assisted","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003936","descriptor_name":"Diagnosis, Computer-Assisted","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003936","descriptor_name":"Diagnosis, Computer-Assisted","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":null,"qualifier_name":null,"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":"D010641","descriptor_name":"Phenotype","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":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.3233/shti230312","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti230312","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI230312","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:37203539","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37203539","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":null},{"id":"pmh:oai:uni-augsburg.opus-bayern.de:100593","is_oa":true,"landing_page_url":"https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/100593","pdf_url":null,"source":{"id":"https://openalex.org/S4306400930","display_name":"OPUS (Augsburg University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I119916105","host_organization_name":"Augsburg University","host_organization_lineage":["https://openalex.org/I119916105"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"doc-type:conferenceobject"}],"best_oa_location":{"id":"doi:10.3233/shti230312","is_oa":true,"landing_page_url":"https://doi.org/10.3233/shti230312","pdf_url":"https://ebooks.iospress.nl/pdf/doi/10.3233/SHTI230312","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","score":0.800000011920929,"id":"https://metadata.un.org/sdg/16"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4377091950.pdf"},"referenced_works_count":12,"referenced_works":["https://openalex.org/W1557675999","https://openalex.org/W2019629500","https://openalex.org/W2059028423","https://openalex.org/W2166408662","https://openalex.org/W2601450892","https://openalex.org/W2613076705","https://openalex.org/W2798836702","https://openalex.org/W2905441841","https://openalex.org/W2969985801","https://openalex.org/W3205249428","https://openalex.org/W4211105116","https://openalex.org/W4361022891"],"related_works":["https://openalex.org/W3162204513","https://openalex.org/W2371138613","https://openalex.org/W2048963458","https://openalex.org/W43109613","https://openalex.org/W2359952343","https://openalex.org/W2080152487","https://openalex.org/W2239445980","https://openalex.org/W2995553446","https://openalex.org/W2120455979","https://openalex.org/W4283332751"],"abstract_inverted_index":{"Computer":[0],"vision":[1],"has":[2,51],"useful":[3],"applications":[4],"in":[5,38,146],"precision":[6],"medicine":[7],"and":[8,29,33,68,77,100,139,148],"recognizing":[9],"facial":[10,86,104],"phenotypes":[11],"of":[12,17,94,112],"genetic":[13,20,43],"disorders":[14,21],"is":[15],"one":[16],"them.":[18],"Many":[19],"are":[22],"known":[23],"to":[24,40,103,116],"affect":[25],"faces'":[26],"visual":[27],"appearance":[28],"geometry.":[30],"Automated":[31],"classification":[32,57],"similarity":[34],"retrieval":[35,144],"aid":[36],"physicians":[37],"decision-making":[39],"diagnose":[41],"possible":[42],"conditions":[44],"as":[45,47,55,97],"early":[46],"possible.":[48],"Previous":[49],"work":[50],"addressed":[52],"the":[53,60],"problem":[54],"a":[56,85,91,98],"problem;":[58],"however,":[59],"sparse":[61],"label":[62],"distribution,":[63],"having":[64],"few":[65],"labeled":[66],"samples,":[67],"huge":[69],"class":[70],"imbalances":[71],"across":[72],"categories":[73],"make":[74],"representation":[75],"learning":[76],"generalization":[78],"harder.":[79],"In":[80],"this":[81],"study,":[82],"we":[83,108],"used":[84],"recognition":[87],"model":[88],"trained":[89],"on":[90,125],"large":[92],"corpus":[93],"healthy":[95],"individuals":[96],"pre-task":[99],"transferred":[101],"it":[102],"phenotype":[105],"recognition.":[106],"Furthermore,":[107],"created":[109],"simple":[110],"baselines":[111],"few-shot":[113,140],"meta-learning":[114,141],"methods":[115],"improve":[117,143],"our":[118,131],"base":[119],"feature":[120],"descriptor.":[121],"Our":[122],"quantitative":[123],"results":[124],"GestaltMatcher":[126],"Database":[127],"(GMDB)":[128],"show":[129],"that":[130],"CNN":[132],"baseline":[133],"surpasses":[134],"previous":[135],"works,":[136],"including":[137],"GestaltMatcher,":[138],"strategies":[142],"performance":[145],"frequent":[147],"rare":[149],"classes.":[150]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2025-10-10T00:00:00"}