{"id":"W2346093359","doi":"10.1002/ana.24650","title":"Whole exome sequencing in patients with white matter abnormalities","year":2016,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":145,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"National Health and Medical Research Council; Australian Research Council; National Institutes of Health; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; Medical Research Council; National Center for Advancing Translational Sciences; Fonds de Recherche du Québec - Santé; ZonMw; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Myelin Project","keywords":"Exome sequencing; Exome; White matter; Medicine; Genetics; Biology; Mutation; Magnetic resonance imaging; Radiology; Gene","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":[0.00004649301,0.00006967429,0.00008685427,0.0000485603,0.00001085929,0.000002879051,0.00007206239,0.00005779902,0.00007383277],"category_scores_gemma":[0.00001606943,0.00004705602,0.00002781054,0.00003399865,0.00007609748,0.000006276197,0.00003443718,0.00002176212,0.00001864352],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001546785,"about_ca_system_score_gemma":0.0000286517,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000565895,"about_ca_topic_score_gemma":0.00001127246,"domain_scores_codex":[0.9994481,0.00005215549,0.0001295123,0.0001566939,0.00006114389,0.0001523932],"domain_scores_gemma":[0.9996485,0.000007166352,0.00005823574,0.0001750637,0.00006865351,0.00004239291],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004257517,0.00002683321,0.9858481,0.00000660377,0.000007292138,0.000003151452,0.00001517883,0.00004447962,0.01151635,0.00002842578,0.001911463,0.0001664008],"study_design_scores_gemma":[0.0006659898,0.0003994652,0.9909541,0.000005494688,0.000001804478,0.00000180759,0.000003747558,0.000002056953,0.003933969,0.00008025875,0.003883587,0.00006769905],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966871,0.00002739221,0.00003553929,0.002366203,0.00002811232,0.00005792751,0.00002036932,0.000003193857,0.0007742265],"genre_scores_gemma":[0.9950336,0.000008101895,0.00001355449,0.004241723,0.00002293916,0.000004795368,0.00001821157,0.000008807128,0.0006482691],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007582381,"threshold_uncertainty_score":0.1918889,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01649441400006527,"score_gpt":0.2414066465777313,"score_spread":0.224912232577666,"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."}}