{"id":"W4291383171","doi":"10.1038/s41431-022-01171-1","title":"KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients","year":2022,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; University Health Network; University of Alberta","funders":"National Institute of General Medical Sciences; U.S. Department of Health and Human Services; National Institutes of Health; U.S. National Library of Medicine; University of Alberta; Office for People With Developmental Disabilities","keywords":"Autism; Autism spectrum disorder; Medical genetics; Medicine; Intellectual disability; Pediatrics; Genetics; Biology; Psychiatry; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002492594,0.0007361079,0.0002996563,0.001482559,0.00117739,0.0006288628,0.0005311412,0.0006318649,0.001207462],"category_scores_gemma":[0.002154562,0.0004378623,0.000365072,0.0009267529,0.0007082954,0.0004123148,0.000651611,0.0005467521,0.0002356235],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00130384,"about_ca_system_score_gemma":0.0005126286,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01561516,"about_ca_topic_score_gemma":0.01249743,"domain_scores_codex":[0.9995446,0.00006003432,0.00004171428,0.000148412,0.0001155865,0.00008963627],"domain_scores_gemma":[0.9994753,0.0001177955,0.0001177647,0.00004578034,0.0000590374,0.0001842787],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003239206,0.0005629886,0.7919022,0.00003502381,0.0000416164,0.1638224,0.006816003,0.0003555048,0.005917234,0.0002556591,0.0008613524,0.02910604],"study_design_scores_gemma":[0.00008684483,0.0009307886,0.7399161,0.00003802076,0.0000690593,0.2496527,0.003463382,0.001182245,0.001891,0.0002836044,0.002411498,0.00007473083],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990807,0.0001011111,0.0001512182,0.00005973382,0.00000669761,0.00002258942,0.0000701188,0.000008612368,0.0004993407],"genre_scores_gemma":[0.9986416,0.0001716877,0.0004187942,0.00008370565,0.00001020022,0.0000311523,0.0001523246,0.000007427811,0.0004831726],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01561516,"threshold_uncertainty_score":0.03104854,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03209863909858653,"score_gpt":0.2459732967222636,"score_spread":0.2138746576236771,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}