{"id":"https://openalex.org/W4400140726","doi":"https://doi.org/10.1093/bioinformatics/btae239","title":"Approximating facial expression effects on diagnostic accuracy <i>via</i> generative AI in medical genetics","display_name":"Approximating facial expression effects on diagnostic accuracy <i>via</i> generative AI in medical genetics","publication_year":2024,"publication_date":"2024-06-28","ids":{"openalex":"https://openalex.org/W4400140726","doi":"https://doi.org/10.1093/bioinformatics/btae239","pmid":"https://pubmed.ncbi.nlm.nih.gov/38940144"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btae239","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btae239","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/40/Supplement_1/i110/58354849/btae239.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/40/Supplement_1/i110/58354849/btae239.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5104338896","display_name":"Tanviben Patel","orcid":null},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Tanviben Patel","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065039843","display_name":"Amna A. Othman","orcid":null},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Amna A Othman","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","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":false,"raw_author_name":"\u00d6mer S\u00fcmer","raw_affiliation_strings":["Institute of Computer Science, Augsburg University , Augsburg, Bavaria 86159, Germany"],"affiliations":[{"raw_affiliation_string":"Institute of Computer Science, Augsburg University , Augsburg, Bavaria 86159, Germany","institution_ids":["https://openalex.org/I179225836"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5099712463","display_name":"Fabio Hellman","orcid":null},"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 Hellman","raw_affiliation_strings":["Institute of Computer Science, Augsburg University , Augsburg, Bavaria 86159, Germany"],"affiliations":[{"raw_affiliation_string":"Institute of Computer Science, Augsburg University , Augsburg, Bavaria 86159, Germany","institution_ids":["https://openalex.org/I179225836"]}]},{"author_position":"middle","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 , Bonn, North Rhine-Westphalia 53113, Germany"],"affiliations":[{"raw_affiliation_string":"Institute for Genomic Statistics and Bioinformatics, University of Bonn , Bonn, North Rhine-Westphalia 53113, 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":["Institute of Computer Science, Augsburg University , Augsburg, Bavaria 86159, Germany"],"affiliations":[{"raw_affiliation_string":"Institute of Computer Science, Augsburg University , Augsburg, Bavaria 86159, Germany","institution_ids":["https://openalex.org/I179225836"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5099712464","display_name":"Molly E Ripper","orcid":null},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Molly E Ripper","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036233590","display_name":"Chris Fortney","orcid":null},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Chris Fortney","raw_affiliation_strings":["Social and Behavioral Research Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Social and Behavioral Research Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015043691","display_name":"Susan Persky","orcid":"https://orcid.org/0000-0002-7768-5744"},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Susan Persky","raw_affiliation_strings":["Social and Behavioral Research Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Social and Behavioral Research Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100424731","display_name":"Ping Hu","orcid":"https://orcid.org/0000-0002-8795-1196"},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ping Hu","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000178958","display_name":"Cedrik Tekendo\u2010Ngongang","orcid":"https://orcid.org/0000-0002-2709-4807"},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cedrik Tekendo-Ngongang","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034400891","display_name":"Suzanna Ledgister Hanchard","orcid":null},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Suzanna Ledgister Hanchard","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5094010639","display_name":"Kendall A. Flaharty","orcid":"https://orcid.org/0009-0000-9473-1354"},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kendall A Flaharty","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028376389","display_name":"Rebekah L. Waikel","orcid":"https://orcid.org/0000-0001-8635-7542"},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rebekah L Waikel","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046006331","display_name":"Dat Duong","orcid":"https://orcid.org/0000-0003-3022-9378"},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dat Duong","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089060602","display_name":"Benjamin D. Solomon","orcid":"https://orcid.org/0000-0002-8826-1023"},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Benjamin D Solomon","raw_affiliation_strings":["Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States"],"affiliations":[{"raw_affiliation_string":"Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute , Bethesda, MA 20892, United States","institution_ids":["https://openalex.org/I4210090236"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":16,"corresponding_author_ids":["https://openalex.org/A5104338896"],"corresponding_institution_ids":["https://openalex.org/I4210090236"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":5.2063,"has_fulltext":true,"cited_by_count":13,"citation_normalized_percentile":{"value":0.95952884,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"40","issue":"Supplement_1","first_page":"i110","last_page":"i118"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13258","display_name":"Williams Syndrome Research","score":0.9024999737739563,"subfield":{"id":"https://openalex.org/subfields/2806","display_name":"Developmental Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T13258","display_name":"Williams Syndrome Research","score":0.9024999737739563,"subfield":{"id":"https://openalex.org/subfields/2806","display_name":"Developmental Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/facial-expression","display_name":"Facial expression","score":0.784818708896637},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.6649177670478821},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6129750609397888},{"id":"https://openalex.org/keywords/generative-grammar","display_name":"Generative grammar","score":0.60567307472229},{"id":"https://openalex.org/keywords/generative-model","display_name":"Generative model","score":0.5194346904754639},{"id":"https://openalex.org/keywords/expression","display_name":"Expression (computer science)","score":0.5081384181976318},{"id":"https://openalex.org/keywords/classifier","display_name":"Classifier (UML)","score":0.4840109050273895},{"id":"https://openalex.org/keywords/support-vector-machine","display_name":"Support vector machine","score":0.43793782591819763},{"id":"https://openalex.org/keywords/pattern-recognition","display_name":"Pattern recognition (psychology)","score":0.43091005086898804},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.3967675566673279},{"id":"https://openalex.org/keywords/speech-recognition","display_name":"Speech recognition","score":0.3297762870788574}],"concepts":[{"id":"https://openalex.org/C195704467","wikidata":"https://www.wikidata.org/wiki/Q327968","display_name":"Facial expression","level":2,"score":0.784818708896637},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.6649177670478821},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6129750609397888},{"id":"https://openalex.org/C39890363","wikidata":"https://www.wikidata.org/wiki/Q36108","display_name":"Generative grammar","level":2,"score":0.60567307472229},{"id":"https://openalex.org/C167966045","wikidata":"https://www.wikidata.org/wiki/Q5532625","display_name":"Generative model","level":3,"score":0.5194346904754639},{"id":"https://openalex.org/C90559484","wikidata":"https://www.wikidata.org/wiki/Q778379","display_name":"Expression (computer science)","level":2,"score":0.5081384181976318},{"id":"https://openalex.org/C95623464","wikidata":"https://www.wikidata.org/wiki/Q1096149","display_name":"Classifier (UML)","level":2,"score":0.4840109050273895},{"id":"https://openalex.org/C12267149","wikidata":"https://www.wikidata.org/wiki/Q282453","display_name":"Support vector machine","level":2,"score":0.43793782591819763},{"id":"https://openalex.org/C153180895","wikidata":"https://www.wikidata.org/wiki/Q7148389","display_name":"Pattern recognition (psychology)","level":2,"score":0.43091005086898804},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.3967675566673279},{"id":"https://openalex.org/C28490314","wikidata":"https://www.wikidata.org/wiki/Q189436","display_name":"Speech recognition","level":1,"score":0.3297762870788574},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000077321","descriptor_name":"Deep Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005149","descriptor_name":"Facial Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005149","descriptor_name":"Facial Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005149","descriptor_name":"Facial Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005149","descriptor_name":"Facial Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005149","descriptor_name":"Facial Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005149","descriptor_name":"Facial Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005826","descriptor_name":"Genetics, Medical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005826","descriptor_name":"Genetics, Medical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005826","descriptor_name":"Genetics, Medical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005826","descriptor_name":"Genetics, Medical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005826","descriptor_name":"Genetics, Medical","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005826","descriptor_name":"Genetics, Medical","qualifier_ui":"Q000379","qualifier_name":"methods","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":"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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018980","descriptor_name":"Williams Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018980","descriptor_name":"Williams Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018980","descriptor_name":"Williams Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018980","descriptor_name":"Williams Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018980","descriptor_name":"Williams Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D018980","descriptor_name":"Williams Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btae239","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btae239","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/40/Supplement_1/i110/58354849/btae239.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:38940144","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38940144","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":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:11211818","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11211818","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11211818/pdf/btae239.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btae239","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btae239","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/40/Supplement_1/i110/58354849/btae239.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/4","score":0.5199999809265137,"display_name":"Quality Education"}],"awards":[{"id":"https://openalex.org/G3497591915","display_name":null,"funder_award_id":"(NIH)","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F8394932145","display_name":"Intramural Research Program","ror":null}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4400140726.pdf"},"referenced_works_count":33,"referenced_works":["https://openalex.org/W1969736828","https://openalex.org/W1973907174","https://openalex.org/W2002655468","https://openalex.org/W2101397180","https://openalex.org/W2106390385","https://openalex.org/W2740863414","https://openalex.org/W2809556790","https://openalex.org/W2896936273","https://openalex.org/W2940983946","https://openalex.org/W2980594093","https://openalex.org/W2984432074","https://openalex.org/W3003301247","https://openalex.org/W3010857996","https://openalex.org/W3026885507","https://openalex.org/W3033581476","https://openalex.org/W3088170688","https://openalex.org/W3094954720","https://openalex.org/W3099088591","https://openalex.org/W3104842364","https://openalex.org/W3171849353","https://openalex.org/W3194184045","https://openalex.org/W3196566835","https://openalex.org/W3208719433","https://openalex.org/W4200418089","https://openalex.org/W4211105116","https://openalex.org/W4226348722","https://openalex.org/W4226350219","https://openalex.org/W4280652872","https://openalex.org/W4281478769","https://openalex.org/W4290610135","https://openalex.org/W4310960669","https://openalex.org/W4385501876","https://openalex.org/W6780507278"],"related_works":["https://openalex.org/W4365211920","https://openalex.org/W3014948380","https://openalex.org/W4380551139","https://openalex.org/W4317695495","https://openalex.org/W4287117424","https://openalex.org/W4387506531","https://openalex.org/W4238433571","https://openalex.org/W3174044702","https://openalex.org/W2967848559","https://openalex.org/W4299831724"],"abstract_inverted_index":{"Artificial":[0],"intelligence":[1],"(AI)":[2],"is":[3,238],"increasingly":[4],"used":[5],"in":[6,78,202,244],"genomics":[7],"research":[8],"and":[9,11,33,38,54,114,142,216],"practice,":[10],"generative":[12,23],"AI":[13],"has":[14],"garnered":[15],"significant":[16],"recent":[17],"attention.":[18],"In":[19],"clinical":[20],"applications":[21],"of":[22,26,46,80,87,96,158,184,191,229],"AI,":[24],"aspects":[25],"the":[27,43,85,126,156,164,181,189,199,227],"underlying":[28],"datasets":[29],"can":[30],"impact":[31,86],"results,":[32],"confounders":[34],"should":[35],"be":[36,71],"studied":[37],"mitigated.":[39],"One":[40],"example":[41],"involves":[42],"facial":[44,88,94,159,165,211,224,236],"expressions":[45,119,166,225],"people":[47],"with":[48,60,100,117,132,149,177,208,240],"genetic":[49,101,246],"conditions.":[50,102,247],"Stereotypically,":[51],"Williams":[52],"(WS)":[53],"Angelman":[55],"(AS)":[56],"syndromes":[57],"are":[58,146],"associated":[59,148,239],"a":[61,65,104,150,173,203,209],"\"happy\"":[62],"demeanor,":[63],"including":[64],"smiling":[66,81,133,151],"expression.":[67,152,212],"Clinical":[68],"geneticists":[69],"may":[70],"more":[72],"likely":[73],"to":[74,179,197],"identify":[75],"these":[76,168,195],"conditions":[77],"images":[79,95,116,201],"individuals.":[82],"To":[83,153],"study":[84],"expression,":[89],"we":[90,110,161,193,220],"analyzed":[91],"publicly":[92],"available":[93],"approximately":[97],"3500":[98],"individuals":[99],"Using":[103],"deep":[105],"learning":[106],"(DL)":[107],"image":[108],"classifier,":[109],"found":[111,234],"that":[112,235],"WS":[113],"AS":[115],"non-smiling":[118],"had":[120],"significantly":[121],"lower":[122],"prediction":[123],"probabilities":[124],"for":[125,139,167],"correct":[127],"syndrome":[128],"labels":[129],"than":[130],"those":[131],"expressions.":[134],"This":[135],"was":[136],"not":[137,147],"seen":[138],"22q11.2":[140],"deletion":[141],"Noonan":[143],"syndromes,":[144],"which":[145],"further":[154],"explore":[155],"effect":[157],"expressions,":[160],"computationally":[162],"altered":[163,223],"images.":[169,186],"We":[170,232],"trained":[171],"HyperStyle,":[172],"GAN-inversion":[174],"technique":[175],"compatible":[176],"StyleGAN2,":[178],"determine":[180],"vector":[182],"representations":[183],"our":[185],"Then,":[187],"following":[188],"concept":[190],"InterfaceGAN,":[192],"edited":[194],"vectors":[196],"recreate":[198],"original":[200],"phenotypically":[204],"accurate":[205],"way":[206],"but":[207],"different":[210,245],"Through":[213],"online":[214],"surveys":[215],"an":[217],"eye-tracking":[218],"experiment,":[219],"examined":[221],"how":[222],"affect":[226],"performance":[228],"human":[230],"experts.":[231],"overall":[233],"expression":[237],"diagnostic":[241],"accuracy":[242],"variably":[243]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":10}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2024-06-29T00:00:00"}
