{"id":"W2058423880","doi":"10.1371/journal.pgen.1004772","title":"De Novo Mutations in Moderate or Severe Intellectual Disability","year":2014,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":421,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Children's Hospital of Eastern Ontario; McGill University; Montreal Neurological Institute and Hospital; Montreal Children's Hospital; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research; McGill University","keywords":"Biology; Genetics; Proband; Exome sequencing; Gene; Loss function; Mutation; Candidate gene; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009060691,0.0001458971,0.0001147912,0.00002583148,0.00005889063,0.00002870606,0.0001693193,0.0001027789,0.00006613438],"category_scores_gemma":[0.0002433978,0.0001392573,0.00003831079,0.0001098162,0.00009907749,0.000001500797,0.0001117921,0.00008495952,0.0000184825],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002226171,"about_ca_system_score_gemma":0.00008876555,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003402651,"about_ca_topic_score_gemma":0.000270712,"domain_scores_codex":[0.9990163,0.00007986127,0.0002034207,0.0003205239,0.0001032872,0.0002766213],"domain_scores_gemma":[0.9995472,0.00003708993,0.00002963715,0.0002634388,0.00003798585,0.00008459834],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003633106,0.0008202324,0.05778421,0.00007963058,0.00006718479,0.000005167321,0.001053992,0.01661149,0.9120524,0.00004710761,0.0006265451,0.01048872],"study_design_scores_gemma":[0.002064386,0.0009376783,0.04889459,0.00003116403,0.00004343556,0.00005197778,0.0004031187,0.05001992,0.8813381,0.001501748,0.01380169,0.0009122135],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972414,0.00009993325,0.001179202,0.0001260221,0.00004855607,0.0001694445,0.00001258678,0.00001021759,0.001112585],"genre_scores_gemma":[0.9965979,0.0001468343,0.002373809,0.0004219522,0.00002948868,0.00002994502,0.00006087344,0.00002696232,0.000312236],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03340843,"threshold_uncertainty_score":0.5678747,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01949141473832457,"score_gpt":0.2453779240270098,"score_spread":0.2258865092886853,"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."}}