{"id":"W4409295477","doi":"10.1016/j.biopsych.2025.02.309","title":"72. Hidden in Plain Sight: The Role of Low-Frequency Variants in Autism and Genome Regulation","year":2025,"lang":"en","type":"article","venue":"Biological Psychiatry","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Autism; Sight; Autism spectrum disorder; Genome; Genetics; Psychology; Neuroscience; Biology; Computational biology; Developmental psychology; Gene; Physics; Astronomy","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001395816,0.0003613766,0.0003710945,0.0007717137,0.0007334677,0.001165348,0.000509482,0.003402528,0.006020037],"category_scores_gemma":[0.005735136,0.0001926574,0.0004351006,0.0007212033,0.0009246423,0.0009057753,0.0005252576,0.001605532,0.001359558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003931505,"about_ca_system_score_gemma":0.0006860252,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007807204,"about_ca_topic_score_gemma":0.01636674,"domain_scores_codex":[0.9992822,0.0001798632,0.00005655002,0.0001598702,0.0001823682,0.0001391607],"domain_scores_gemma":[0.9979174,0.001283619,0.0001955245,0.0001413678,0.0002738895,0.0001882674],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.002880272,0.0002309859,0.06609291,0.001084756,0.0007233435,0.006742892,0.00264316,0.0009712996,0.02415543,0.06564392,0.3017057,0.5271255],"study_design_scores_gemma":[0.0007398645,0.0004595235,0.422069,0.00206831,0.001427562,0.01259651,0.001626471,0.002474861,0.01443632,0.1213877,0.4203279,0.0003860254],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1802645,0.1881708,0.02965669,0.4180065,0.0267322,0.0001291089,0.008241463,0.00104171,0.1477569],"genre_scores_gemma":[0.7676764,0.06162705,0.01417018,0.08336271,0.01851481,0.000191552,0.002339952,0.000381564,0.05173577],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.007807204,"threshold_uncertainty_score":0.02013904,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01937331395642241,"score_gpt":0.2795447706659674,"score_spread":0.2601714567095451,"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."}}