{"id":"W2084615635","doi":"10.1038/ejhg.2012.243","title":"Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals","year":2012,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Centre Hospitalier de l’Université de Montréal; Université de Montréal; Hôpital Notre-Dame","funders":"","keywords":"Minigene; Biology; RNA splicing; Genetics; Missense mutation; Gene; Exonic splicing enhancer; splice; Mutation; RNA","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":[],"consensus_categories":[],"category_scores_codex":[0.0007808854,0.0001024282,0.00022975,0.0003364983,0.00005590298,0.00001818669,0.0003153308,0.00002995907,0.00001843123],"category_scores_gemma":[0.0001380337,0.00007788918,0.0001467058,0.0003288391,0.00006380322,0.000008225292,0.0001218552,0.0001489877,0.000001162018],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001271268,"about_ca_system_score_gemma":0.00003340758,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001436372,"about_ca_topic_score_gemma":0.0001079706,"domain_scores_codex":[0.9983869,0.0005433372,0.0005214321,0.0001064159,0.0002311881,0.0002106957],"domain_scores_gemma":[0.9992729,0.00003872174,0.0003226179,0.0002627274,0.00004304175,0.00006003554],"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":[0.00001863564,0.0001319349,0.2643924,0.00002810584,0.0001957043,0.000006149601,0.0005179735,0.001450725,0.7325503,0.00004542566,0.00006806401,0.0005945651],"study_design_scores_gemma":[0.0004857818,0.0003254897,0.815187,0.0001161799,0.00007912089,0.000003121247,0.0001099686,0.0000393831,0.1834772,0.0000142539,0.00009039555,0.000072079],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971504,0.002264069,0.0001371809,0.00006472797,0.0001240812,0.0001049619,0.00000814348,6.977763e-7,0.0001457298],"genre_scores_gemma":[0.9990904,0.000431389,0.0001155499,0.00002633915,0.00009368436,7.180287e-7,0.00000800029,0.00001613596,0.0002177672],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5507946,"threshold_uncertainty_score":0.3176228,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01232696436065032,"score_gpt":0.2720039166809097,"score_spread":0.2596769523202593,"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."}}