{"id":"W2191856470","doi":"10.1002/ajmg.a.37483","title":"Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features","year":2015,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Medicine; Global developmental delay; Palpebral fissure; Anatomy; Biology; Genetics","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":[0.0001309093,0.0009984638,0.0004090226,0.001259836,0.0006912865,0.0003865661,0.0003957475,0.0009806158,0.00225712],"category_scores_gemma":[0.001019058,0.0003800477,0.0003695715,0.0007534791,0.0006528184,0.0003249001,0.0005907952,0.000874037,0.0004013214],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002759918,"about_ca_system_score_gemma":0.0002219812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009812855,"about_ca_topic_score_gemma":0.00108027,"domain_scores_codex":[0.9997116,0.00003074784,0.0000369945,0.0001085362,0.00003957019,0.00007265776],"domain_scores_gemma":[0.9991339,0.000243659,0.0002743461,0.00006423101,0.00004052394,0.0002434086],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003589593,0.00008223177,0.1184945,0.00005661012,0.00005674785,0.8206946,0.0008667083,0.0002712967,0.05130159,0.0004118889,0.0003708847,0.007034021],"study_design_scores_gemma":[0.00001855316,0.0001713318,0.067171,0.000007863853,0.00002932275,0.9272671,0.0001636988,0.0001676746,0.004088805,0.0001430171,0.0007525155,0.00001906925],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980177,0.0003048076,0.0005481935,0.0001079455,0.00001946584,0.00001923638,0.0001188627,0.00002213095,0.0008416449],"genre_scores_gemma":[0.9987857,0.0002098787,0.0003482107,0.00005149418,0.00004186819,0.00001001234,0.0001149922,0.000009095906,0.0004288018],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00225712,"threshold_uncertainty_score":0.007550776,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00947256439664278,"score_gpt":0.2330996460398194,"score_spread":0.2236270816431766,"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."}}