{"id":"W2143304148","doi":"10.1136/jmg.2009.066795","title":"Phenomic determinants of genomic variation in autism spectrum disorders","year":2009,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":40,"is_retracted":false,"has_abstract":true,"ca_institutions":"Autism Canada; Child and Family Research Institute; Queen's University; University of British Columbia","funders":"Autism Speaks","keywords":"dup; Autism; Copy-number variation; Autism Diagnostic Observation Schedule; Cohort; Genetics; Autism spectrum disorder; Intellectual disability; Population; Biology; Phenotype; Medicine; Internal medicine; Psychiatry; Gene duplication; Genome; 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":[0.0003100906,0.000301534,0.0001489097,0.001070496,0.000243924,0.0003116864,0.0002023871,0.0003514735,0.001887907],"category_scores_gemma":[0.001901927,0.0001054041,0.0001533662,0.0004786144,0.0004345855,0.0001282088,0.0004406577,0.000241413,0.0001233891],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001428233,"about_ca_system_score_gemma":0.000112462,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001531571,"about_ca_topic_score_gemma":0.001373246,"domain_scores_codex":[0.9996216,0.00009965118,0.00003156368,0.0001274591,0.0000760482,0.00004366214],"domain_scores_gemma":[0.9992012,0.0003499829,0.0002487883,0.00003876646,0.00005821933,0.0001029382],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002685351,0.00003039156,0.9791123,0.00001716588,0.0000812411,0.0007808995,0.000170703,0.0001976586,0.01508111,0.0001008398,0.0001112611,0.004047855],"study_design_scores_gemma":[0.000004119176,0.00003925564,0.9984992,0.000002049637,0.00001500959,0.0007743009,0.0000495321,0.0001440461,0.0003387171,0.00006788022,0.00006431473,0.000001719988],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994609,0.00008677678,0.0001113816,0.00002408909,0.00000177502,0.000003611391,0.0001169691,0.000003544879,0.0001908287],"genre_scores_gemma":[0.9997731,0.00002304013,0.00007999335,0.000006955707,0.000002739217,0.000003155262,0.00008379018,0.000002116117,0.00002518082],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001887907,"threshold_uncertainty_score":0.006315708,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02204229714284053,"score_gpt":0.3157648029492573,"score_spread":0.2937225058064168,"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."}}