{"id":"W4413311599","doi":"10.21203/rs.3.rs-7031850/v1","title":"Persistent Tic Disorders Are Associated With 17q12 Duplications","year":2025,"lang":"en","type":"preprint","venue":"Research Square","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Dalhousie University","funders":"National Institutes of Health; Vetenskapsrådet; AstraZeneca; Amgen","keywords":"Copy-number variation; Gene duplication; Locus (genetics); Genetics; Segmental duplication; Biology; Gene; Medicine; Genome; Gene family","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":[0.0003172404,0.001047297,0.0008527446,0.002497497,0.000609379,0.001322375,0.0006913943,0.001716349,0.01878673],"category_scores_gemma":[0.00424908,0.0005329453,0.0006242775,0.002380941,0.001225865,0.0005949144,0.00140165,0.001012368,0.002357223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003807284,"about_ca_system_score_gemma":0.0005063907,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002148683,"about_ca_topic_score_gemma":0.001936254,"domain_scores_codex":[0.9991916,0.00009793029,0.00007218269,0.0002557542,0.0002137978,0.000168724],"domain_scores_gemma":[0.9969639,0.001141827,0.001155325,0.0003050339,0.000124728,0.0003092185],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.004994716,0.0001456215,0.3357014,0.0005095174,0.0008877524,0.3431688,0.001897616,0.001670326,0.200852,0.007300295,0.01215381,0.09071818],"study_design_scores_gemma":[0.0002482861,0.0001871292,0.5062041,0.0002202907,0.0006807483,0.4477743,0.001169314,0.001589639,0.01805066,0.01129246,0.01249412,0.00008889191],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.981874,0.001655492,0.002543987,0.001112355,0.0001310166,0.00002318731,0.003035832,0.0002564227,0.009367699],"genre_scores_gemma":[0.9924747,0.0009086477,0.001608961,0.0001266828,0.0002632748,0.00001742401,0.001334507,0.0001511446,0.003114595],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01878673,"threshold_uncertainty_score":0.06284785,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08365481559913984,"score_gpt":0.390738515175321,"score_spread":0.3070836995761811,"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."}}