{"id":"W2094453374","doi":"10.1002/ajmg.b.30903","title":"Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to<i>SH3TC2</i>,<i>ADRB2</i>, and<i>HTR4</i>on 5q, and within the desmocollin gene cluster on 18q","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","topic":"Cardiovascular Effects of Exercise","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; SickKids Foundation; Centre for Addiction and Mental Health","funders":"Oesterreichische Nationalbank; National Alliance for Research on Schizophrenia and Depression","keywords":"Breakpoint; Biology; Genetics; Chromosomal translocation; Gene; Locus (genetics); Candidate gene","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":[0.00171889,0.0003495121,0.0008895056,0.0005056595,0.0001132801,0.00003924795,0.0003691005,0.0001442158,0.000009570545],"category_scores_gemma":[0.0003829307,0.0002719964,0.000201899,0.0008937934,0.0005312625,0.00004662156,0.00007689934,0.0006794396,0.000003402437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005126391,"about_ca_system_score_gemma":0.0004721854,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001927362,"about_ca_topic_score_gemma":0.00002942787,"domain_scores_codex":[0.9955711,0.000740562,0.001240816,0.0004638112,0.001589325,0.00039433],"domain_scores_gemma":[0.99769,0.0002353018,0.0006182651,0.0005500521,0.000229802,0.0006766067],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.01736146,0.007311028,0.1307577,0.001136923,0.001402834,0.003749886,0.02278403,0.0209528,0.4159761,0.0001638695,0.001928545,0.3764748],"study_design_scores_gemma":[0.0116046,0.02231971,0.9118609,0.001208157,0.00155006,0.01568913,0.0006414016,0.01095983,0.02201132,0.0002069012,0.001042411,0.0009055517],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896053,0.001286084,0.003133067,0.004658286,0.0004313177,0.0008484159,0.00001442696,0.00001311892,0.000009950948],"genre_scores_gemma":[0.9841104,0.008358766,0.003201027,0.003815541,0.0004045406,0.00002138991,0.00000806365,0.0000687639,0.00001148186],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7811032,"threshold_uncertainty_score":0.9999732,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01260039660686881,"score_gpt":0.2724503299823952,"score_spread":0.2598499333755264,"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."}}