{"id":"W3041762841","doi":"10.1155/2020/7093409","title":"Chromosome 20p Partial <i>De Novo</i> Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies","year":2020,"lang":"en","type":"article","venue":"Case Reports in Genetics","topic":"Pediatric Hepatobiliary Diseases and Treatments","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Medicine; Facial dysmorphism; Gene duplication; Genetics; Biology; Phenotype; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007205897,0.0001758092,0.0002875245,0.00009133371,0.00004245663,0.00002597185,0.00001964515,0.00008442513,0.00002356524],"category_scores_gemma":[0.00006916433,0.0001592128,0.00004184801,0.000271427,0.00005485563,0.00005259928,0.00004653375,0.0001236759,0.000002895071],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001064948,"about_ca_system_score_gemma":0.0002020315,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001250079,"about_ca_topic_score_gemma":0.00004768496,"domain_scores_codex":[0.9985849,0.00003320903,0.000510632,0.0004096709,0.0001963838,0.0002652405],"domain_scores_gemma":[0.9992245,0.00002012596,0.0001861794,0.000232935,0.00004389105,0.0002923396],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001067151,0.000262137,0.8025473,0.0000740246,0.00001293631,0.1930651,0.0006164278,0.00001503011,0.0002891401,6.594366e-7,0.00001049568,0.003000071],"study_design_scores_gemma":[0.00193145,0.0006866481,0.9547523,0.00004133198,0.000411392,0.03999436,0.0002123115,0.0007865613,0.0006204349,0.000009850167,0.0002812922,0.0002720644],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977973,0.001204916,0.00001603876,0.0001405419,0.0000757506,0.0006561363,0.00005607025,0.00002604862,0.00002718361],"genre_scores_gemma":[0.9989316,0.0003252111,0.00018258,0.0001466068,0.0001428229,0.0001153366,0.0001226869,0.00002210787,0.00001108463],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1530708,"threshold_uncertainty_score":0.649251,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02197935235640525,"score_gpt":0.2505992518098648,"score_spread":0.2286198994534595,"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."}}