{"id":"W4282032598","doi":"10.1038/s41398-022-01997-9","title":"Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder","year":2022,"lang":"en","type":"article","venue":"Translational Psychiatry","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Fundação de Amparo à Pesquisa do Estado de São Paulo; Hospital for Sick Children; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Autism Speaks","keywords":"Reelin; Genetics; Biology; Autism spectrum disorder; Missense mutation; Gene; Proband; Allele; Mutation; Autism; Neuroscience; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002412003,0.0002436089,0.0002294286,0.0002459463,0.0004957485,0.00005926958,0.0004388907,0.00006912666,0.002816999],"category_scores_gemma":[0.0000250486,0.0002675281,0.0001004892,0.000843312,0.0001251326,0.0004304522,0.0001374708,0.000782733,0.00007172007],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000741775,"about_ca_system_score_gemma":0.0003585552,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002584321,"about_ca_topic_score_gemma":0.0005967422,"domain_scores_codex":[0.9971192,0.0003495422,0.0004248459,0.0007764088,0.000770739,0.000559254],"domain_scores_gemma":[0.9992892,0.0001960061,0.0000864675,0.0003341702,0.000002624539,0.00009156571],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0002889654,0.0005859886,0.06616064,0.00004415044,0.00001433094,0.00004932395,0.002361484,0.001221358,0.002704845,0.9256036,0.0002494245,0.0007159031],"study_design_scores_gemma":[0.003088952,0.0002514649,0.2815293,0.00003138021,0.000009333765,0.0002117705,0.0002010699,0.002305676,0.0003730398,0.7014178,0.01001104,0.0005691758],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8863993,0.002189317,0.001165065,0.09537461,0.001148793,0.0008688855,0.0003630645,0.0001525542,0.01233839],"genre_scores_gemma":[0.9979573,0.00008067815,0.0004127582,0.0008886843,0.00006162512,0.00009342949,0.00003131092,0.00005243564,0.0004217973],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2241858,"threshold_uncertainty_score":0.9999777,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02400447608769761,"score_gpt":0.2890489006483599,"score_spread":0.2650444245606622,"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."}}