{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002032232,0.0002421226,0.000215594,0.00005323413,0.0000570492,0.00002492792,0.0003309785,0.0001209194,0.0000132434],"category_scores_gemma":[0.0001428532,0.0002473539,0.000158915,0.000186307,0.0002443176,0.000005038725,0.0002481518,0.00009404078,0.00001058958],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002771342,"about_ca_system_score_gemma":0.000283822,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000664341,"about_ca_topic_score_gemma":0.0001653155,"domain_scores_codex":[0.9985177,0.00006472899,0.000373714,0.0004843191,0.0002704521,0.0002891006],"domain_scores_gemma":[0.9991198,0.000009931331,0.000104295,0.0005137085,0.000117173,0.0001351178],"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":[0.00008659662,0.0001724453,0.01290307,0.00005570421,0.00009013658,0.000001509616,0.0003259006,0.0005723039,0.9841896,0.00008965467,0.0009942548,0.0005188774],"study_design_scores_gemma":[0.001795022,0.0006083878,0.02495637,0.00004799151,0.00007080996,0.00004233573,0.005202535,0.0002030377,0.9584705,0.001219785,0.006586789,0.0007964093],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898458,0.002852516,0.00522097,0.000187491,0.000643817,0.0002068919,0.00002910667,0.00001830259,0.0009951646],"genre_scores_gemma":[0.9943274,0.0001196394,0.004933701,0.0002848445,0.00003812287,0.00001756021,0.00009953352,0.00004021673,0.000138955],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02571902,"threshold_uncertainty_score":0.9999979,"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."}}