{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001806233,0.0005094616,0.0002790531,0.001203817,0.0002701513,0.0003919147,0.0002344852,0.000457684,0.002376126],"category_scores_gemma":[0.0006841077,0.0001299034,0.0003565497,0.0005630653,0.0002628621,0.0001214409,0.000474719,0.0001988577,0.0003940503],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00019,"about_ca_system_score_gemma":0.000136759,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006890814,"about_ca_topic_score_gemma":0.001460356,"domain_scores_codex":[0.9997854,0.00001966296,0.00002249438,0.00008007157,0.00006273679,0.00002973821],"domain_scores_gemma":[0.9997891,0.00006960295,0.00007305214,0.00001765658,0.00001363571,0.00003699336],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001134735,0.0001323584,0.4383819,0.0005994507,0.0004763232,0.08189262,0.0005705585,0.0006734245,0.401597,0.001006815,0.001422396,0.0721125],"study_design_scores_gemma":[0.00006801845,0.000334959,0.8140007,0.0001352876,0.0003561486,0.1194377,0.000323361,0.001395022,0.04714386,0.001332266,0.01544267,0.00003015308],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993665,0.001733938,0.001135922,0.00007242093,0.00001453337,0.00002520629,0.00112305,0.00007098626,0.002159],"genre_scores_gemma":[0.9965359,0.0005902519,0.001226986,0.00005295116,0.00001566852,0.000008817772,0.0008741663,0.00001303982,0.0006822079],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002376126,"threshold_uncertainty_score":0.007948995,"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."}}