{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003244529,0.0004656527,0.0002677844,0.0005545602,0.0006167614,0.0006627375,0.0001740086,0.0005148894,0.001158396],"category_scores_gemma":[0.001702928,0.0001602907,0.0001842457,0.0004614523,0.0002390786,0.0002981756,0.000395443,0.0002593882,0.0003260616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001151332,"about_ca_system_score_gemma":0.0001253511,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008474123,"about_ca_topic_score_gemma":0.001199662,"domain_scores_codex":[0.9997029,0.0000493027,0.00003299035,0.0001210243,0.00004920716,0.00004458658],"domain_scores_gemma":[0.9995155,0.0002115996,0.0001182546,0.00005525768,0.00005080575,0.00004869243],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008451234,0.0001227034,0.8838349,0.0000572879,0.0001496216,0.03425648,0.001485693,0.0007385184,0.03466924,0.0002868325,0.002106411,0.04144724],"study_design_scores_gemma":[0.00008271816,0.0004963772,0.8708631,0.00006018603,0.0002224675,0.1086335,0.0009586511,0.002072025,0.009248741,0.0008849631,0.006441842,0.00003554218],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983897,0.0003236278,0.0004125859,0.00007403335,0.00001096127,0.000007797843,0.0002066252,0.0000107217,0.0005639441],"genre_scores_gemma":[0.9986466,0.0002511107,0.0003898902,0.00008519129,0.00001939527,0.000005510262,0.0003426518,0.000008899658,0.0002508479],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001158396,"threshold_uncertainty_score":0.003875196,"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."}}