{"id":"W2983921917","doi":"10.1002/aur.2238","title":"Meta‐Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort","year":2019,"lang":"en","type":"review","venue":"Autism Research","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Conselho Nacional de Desenvolvimento Científico e Tecnológico; Fundação de Amparo à Pesquisa do Estado de São Paulo","keywords":"Copy-number variation; Missense mutation; Genetics; Proband; Exome sequencing; Autism; Biology; Intellectual disability; Gene; Clinical significance; Autism spectrum disorder; Exome; Medicine; Phenotype; Genome; Mutation; Internal medicine; Psychiatry","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001311597,0.0004677548,0.00194832,0.0003131873,0.0001722336,0.00008946763,0.0006762862,0.0005067731,0.0001743618],"category_scores_gemma":[0.00005819425,0.000349441,0.000583221,0.0002674787,0.0002947571,0.00001623956,0.0005964848,0.0003610438,0.00003478067],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004228543,"about_ca_system_score_gemma":0.0009658047,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009761078,"about_ca_topic_score_gemma":0.0001519594,"domain_scores_codex":[0.9966854,0.0005117306,0.0008190384,0.0008491056,0.0005193515,0.0006152992],"domain_scores_gemma":[0.9980565,0.0001065931,0.0003014482,0.001190952,0.0001335228,0.0002109308],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001678097,0.002166445,0.004907646,0.06820318,0.1642962,0.0002056991,0.001277719,0.00007665764,0.01114267,0.01593231,0.003094504,0.7285292],"study_design_scores_gemma":[0.0005414801,0.0006840243,0.001808634,0.0003781506,0.009397321,0.0001552174,0.0001051447,0.00001434856,0.0006083245,0.0001836475,0.9854036,0.0007201395],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.004503364,0.9926181,0.00005074325,0.00006680725,0.0001283854,0.001181871,0.0008705349,0.00001334232,0.0005668084],"genre_scores_gemma":[0.01522528,0.975752,0.0003668285,0.00002039482,0.00005225242,0.0002768356,0.001841496,0.00007902164,0.006385866],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.982309,"threshold_uncertainty_score":0.9998958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2370808611880086,"score_gpt":0.4447037930314117,"score_spread":0.2076229318434031,"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."}}