{"id":"W1975606212","doi":"10.1016/j.ajhg.2014.05.004","title":"Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families","year":2014,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":164,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Douglas Mental Health University Institute","funders":"National Institute of Mental Health; Autism Speaks","keywords":"Gene duplication; Autism; Genetics; Multiplex; Biology; Neuroscience; Copy-number variation; Psychology; Genome; Gene; Developmental psychology","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":[0.0002082508,0.00006262428,0.0001287945,0.00004383223,0.00005146237,0.00001037256,0.00008576659,0.00002064401,0.0000024708],"category_scores_gemma":[0.00001238024,0.00004825781,0.0000262564,0.00003316595,0.0004715796,0.00000329541,0.00001827063,0.00005050965,1.112114e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005226742,"about_ca_system_score_gemma":0.00002579985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005483336,"about_ca_topic_score_gemma":0.00004635603,"domain_scores_codex":[0.9994527,0.00008368836,0.00024899,0.00007268012,0.00007173423,0.00007019209],"domain_scores_gemma":[0.9995462,0.00001744656,0.0002642014,0.00008776713,0.00005733713,0.00002704594],"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":[0.00003664213,0.00001967404,0.01725663,0.000007190527,0.00002064351,1.853233e-7,0.0004615696,0.00019678,0.9780233,0.001011852,0.000006841083,0.002958684],"study_design_scores_gemma":[0.0007463744,0.001620592,0.9032224,0.00001974392,0.00004020655,0.0001353204,0.002125646,0.0003172796,0.08901834,0.001798784,0.0008150063,0.0001403127],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984105,0.0005968607,0.0006902958,0.000204567,0.00001450958,0.00004363783,0.00000841099,9.057973e-7,0.00003037785],"genre_scores_gemma":[0.9979234,0.001067286,0.0008601747,0.00006766689,0.00003958522,0.000001591391,0.000005360037,0.000005181627,0.00002976857],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8890049,"threshold_uncertainty_score":0.1967897,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008807530041790934,"score_gpt":0.2315970747520814,"score_spread":0.2227895447102904,"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."}}