{"id":"W2136922503","doi":"10.1136/jmg.2005.039693","title":"An inversion inv(4)(p12–p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster","year":2006,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland; McMaster University; Hospital for Sick Children; SickKids Foundation; Centre for Addiction and Mental Health","funders":"Hospital for Sick Children; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute; National Alliance for Research on Schizophrenia and Depression; Howard Hughes Medical Institute","keywords":"Genetics; Autism; Biology; Breakpoint; Transmission disequilibrium test; Linkage disequilibrium; Chromosomal inversion; Allele; Gene; Haplotype; Chromosome; Karyotype; Psychology; Psychiatry","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001436034,0.001217683,0.0003402621,0.001012175,0.0005529483,0.0003372311,0.0006209721,0.001172576,0.004226291],"category_scores_gemma":[0.0009735405,0.0004307166,0.0003189332,0.0005062367,0.0008439927,0.0002498981,0.0007575607,0.0006738141,0.000484073],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003370074,"about_ca_system_score_gemma":0.0002772321,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001514274,"about_ca_topic_score_gemma":0.001495184,"domain_scores_codex":[0.9996653,0.00004413445,0.00003653595,0.0001137667,0.00008005432,0.00006016773],"domain_scores_gemma":[0.9994524,0.0001481965,0.0002630593,0.00002621603,0.00002122537,0.000088861],"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":[0.000369954,0.00006957202,0.1089326,0.0001132237,0.00005800433,0.7838742,0.0009140256,0.0002923167,0.09468156,0.0004283455,0.0004881055,0.009778179],"study_design_scores_gemma":[0.0000473234,0.0002040978,0.08087462,0.00002665917,0.00007630536,0.9062811,0.0002498352,0.000324578,0.009980372,0.0003719435,0.001540185,0.00002302886],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980621,0.0001772063,0.0006618019,0.0001104956,0.00001193307,0.00001516024,0.00006969389,0.00003837841,0.0008532989],"genre_scores_gemma":[0.9983674,0.0001033922,0.001010568,0.00003678786,0.00001837735,0.000009224352,0.00008355093,0.000008427359,0.0003624171],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004226291,"threshold_uncertainty_score":0.0141384,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02809359293833836,"score_gpt":0.3259703111242723,"score_spread":0.297876718185934,"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."}}