{"id":"W3217649485","doi":"10.1101/2021.11.18.21266480","title":"KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients","year":2021,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Office for People With Developmental Disabilities","keywords":"Missense mutation; Genetics; Intellectual disability; Medicine; Hypertelorism; Nonsense; Frameshift mutation; Phenotype; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.000481658,0.0005367205,0.000309887,0.00186028,0.001456302,0.0006818349,0.0005947582,0.0006221152,0.001473987],"category_scores_gemma":[0.00231717,0.0004286452,0.0003609145,0.0008869024,0.0005129319,0.0005256024,0.0008151049,0.000646666,0.0005923824],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00118996,"about_ca_system_score_gemma":0.0005666458,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02260455,"about_ca_topic_score_gemma":0.01715355,"domain_scores_codex":[0.9993399,0.00009904947,0.00005078617,0.0002283627,0.0001677526,0.0001142081],"domain_scores_gemma":[0.9990926,0.0001835962,0.0001621571,0.0001071518,0.0001629204,0.0002915628],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001979393,0.0004881093,0.9783536,0.000009867053,0.00001578938,0.009418913,0.001998725,0.00008343835,0.002257381,0.00005114239,0.0002780122,0.006847144],"study_design_scores_gemma":[0.00005205332,0.0008382773,0.9753059,0.0000127794,0.00002982991,0.01844905,0.002418134,0.0007389871,0.0008207338,0.00006694048,0.001221681,0.00004567435],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993441,0.00003663993,0.00008315501,0.00001986954,0.000003993736,0.00002677748,0.0001313806,0.000004573076,0.0003493641],"genre_scores_gemma":[0.9985383,0.00007672546,0.0003546038,0.0000527258,0.000009071236,0.00005797919,0.0004471865,0.000006517759,0.0004569611],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02260455,"threshold_uncertainty_score":0.04494596,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01432100363155074,"score_gpt":0.2390120955669488,"score_spread":0.2246910919353981,"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."}}