{"id":"W6957569685","doi":"10.60692/b871s-zmg67","title":"Performance of case-control rare copy number variation annotation in classification of autism","year":2015,"lang":"en","type":"article","venue":"Greater South Information System","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto; McMaster University","funders":"","keywords":"Copy-number variation; Autism; Autism spectrum disorder; Genome-wide association study; Genetic variation; Variation (astronomy); Neurodevelopmental disorder; Autism Diagnostic Observation Schedule","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":[0.02698391,0.001013464,0.001201352,0.004742467,0.0005987732,0.001226355,0.0007786052,0.001494117,0.001031764],"category_scores_gemma":[0.04126299,0.0002870719,0.00110745,0.001006914,0.0008584583,0.0008817376,0.0008901645,0.0007633632,0.0005005088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004312743,"about_ca_system_score_gemma":0.0004884318,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003610031,"about_ca_topic_score_gemma":0.003024281,"domain_scores_codex":[0.9870592,0.006854051,0.0009681499,0.003337047,0.00109702,0.0006844458],"domain_scores_gemma":[0.9406103,0.05025395,0.002977867,0.002755044,0.002711221,0.0006917198],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002709693,0.0002178489,0.8822885,0.0001522146,0.0007670913,0.0001833492,0.0002025546,0.01567269,0.01011908,0.0002554074,0.0010563,0.08637532],"study_design_scores_gemma":[0.0001239646,0.0008414608,0.5495178,0.00009952843,0.000502148,0.001589303,0.0002034246,0.4298253,0.01411297,0.001833448,0.001233335,0.0001173444],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9482739,0.001558924,0.04674467,0.0001501203,0.00007712859,0.0001255584,0.000976151,0.0009205682,0.001173013],"genre_scores_gemma":[0.9876918,0.00009435474,0.01047775,0.00005793584,0.00003081093,0.00004883221,0.001430834,0.00004273934,0.0001249407],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02698391,"threshold_uncertainty_score":0.1427062,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06061985602863839,"score_gpt":0.2694790466426074,"score_spread":0.208859190613969,"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."}}