{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009000019,0.0001189062,0.0003225893,0.0003258729,0.00003518406,0.0000222555,0.0007893462,0.0001419874,0.0003005968],"category_scores_gemma":[0.0005264213,0.00010579,0.00009143543,0.0002947236,0.0001341927,0.00008563334,0.00008220299,0.000535913,0.00001726821],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000100176,"about_ca_system_score_gemma":0.0004151414,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002035049,"about_ca_topic_score_gemma":0.00007766167,"domain_scores_codex":[0.9970573,0.0002002704,0.0008345031,0.0001827022,0.001365688,0.0003595061],"domain_scores_gemma":[0.9989889,0.000176177,0.0004190557,0.0001930155,0.000005627101,0.0002172199],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009003662,0.004602266,0.09321113,0.0001873773,0.00004510809,0.001398881,0.006799341,0.003440619,0.4503268,0.04988456,0.0004972324,0.3887063],"study_design_scores_gemma":[0.002306955,0.00110019,0.8402148,0.00009983765,0.00001543344,0.0002009288,0.00002404594,0.01725735,0.01730427,0.1207906,0.0005037846,0.0001817611],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9767594,0.0004634558,0.001264841,0.02083792,0.0002593929,0.0001269175,0.000001967368,0.000005284727,0.0002807744],"genre_scores_gemma":[0.9961215,0.003183728,0.0003353399,0.0002361918,0.00008017862,5.509349e-7,1.002568e-7,0.00001298754,0.00002938901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7470037,"threshold_uncertainty_score":0.4313993,"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."}}