{"id":"W3206988708","doi":"10.1111/cge.14072","title":"Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes","year":2021,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Conselho Nacional de Desenvolvimento Científico e Tecnológico; Fundação de Amparo à Pesquisa do Estado de São Paulo","keywords":"Copy-number variation; Etiology; Autism; Microarray; Autism spectrum disorder; Genetics; Cohort; Biology; Microarray analysis techniques; Heritability of autism; Genomics; Gene; Bioinformatics; Medicine; Genome; Psychiatry; Pathology; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000248321,0.000119613,0.0001911796,0.0000135437,0.00008163333,0.00001825786,0.000149371,0.0001723805,0.00008154705],"category_scores_gemma":[0.00004879586,0.00009087854,0.00009899538,0.0001425733,0.0001364473,0.000002813356,0.00009735677,0.0001107002,0.00001155425],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001259408,"about_ca_system_score_gemma":0.0002020743,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000311435,"about_ca_topic_score_gemma":0.0007365362,"domain_scores_codex":[0.9987464,0.0001853787,0.0004750881,0.0002842776,0.000116854,0.0001920182],"domain_scores_gemma":[0.9992621,0.00007358572,0.000149722,0.0003943424,0.00006562111,0.00005460737],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005360004,0.0002936508,0.9841944,0.000009646268,0.00006365062,0.000002904865,0.00004429761,0.0002643921,0.01057256,0.00407883,0.0001721681,0.0002499169],"study_design_scores_gemma":[0.001430482,0.0003544535,0.7728494,0.00001753743,0.0001003351,0.00001306211,0.0001045254,0.0001951287,0.1965532,0.001936657,0.02621794,0.000227203],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934337,0.0006317088,0.002873061,0.001559201,0.00020566,0.0002153974,0.00003508588,0.000005758996,0.001040458],"genre_scores_gemma":[0.9949073,0.002694309,0.001358685,0.000150119,0.000110794,0.00001900684,0.0001944839,0.00001407692,0.000551245],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2113449,"threshold_uncertainty_score":0.3705919,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00737114723561884,"score_gpt":0.2613533814061452,"score_spread":0.2539822341705264,"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."}}