{"id":"W2046499002","doi":"10.1038/mp.2014.193","title":"X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes","year":2015,"lang":"en","type":"article","venue":"Molecular Psychiatry","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":309,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Manitoba","funders":"National Heart, Lung, and Blood Institute; Women's and Children's Hospital Foundation; National Health and Medical Research Council; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Fondation pour la Recherche Médicale","keywords":"Exome sequencing; Intellectual disability; Genetics; Exome; Gene; Computational biology; Biology; Psychology; Mutation","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009579485,0.001196868,0.0007061754,0.001578335,0.002061973,0.001690814,0.000989824,0.001508707,0.005860608],"category_scores_gemma":[0.002499206,0.0003752412,0.0007421311,0.001778369,0.001281581,0.0005126013,0.0009992922,0.0007806468,0.0008325455],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006962797,"about_ca_system_score_gemma":0.0008541652,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004603406,"about_ca_topic_score_gemma":0.003768442,"domain_scores_codex":[0.9990896,0.00007632603,0.00009690547,0.0002709603,0.0002756439,0.0001905531],"domain_scores_gemma":[0.9988288,0.0006587728,0.0001721289,0.0001203484,0.00006979748,0.0001500741],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002721104,0.0006991079,0.5776234,0.0006120501,0.000770456,0.1620833,0.01466081,0.002372418,0.1430167,0.007198589,0.004524282,0.08371782],"study_design_scores_gemma":[0.0002622378,0.0005918827,0.8421726,0.0003544945,0.0009548272,0.09134432,0.003650083,0.001984573,0.02532306,0.004059358,0.02918818,0.0001143198],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946667,0.0007192448,0.0007798915,0.0001527749,0.00001757078,0.00002347615,0.001167719,0.00002901662,0.002443653],"genre_scores_gemma":[0.9955696,0.0004143098,0.0008731417,0.0001542596,0.00001965653,0.00002622947,0.001280188,0.00001886032,0.001643577],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005860608,"threshold_uncertainty_score":0.01960564,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02095785742411263,"score_gpt":0.2503994917349457,"score_spread":0.2294416343108331,"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."}}