{"id":"W3196203517","doi":"10.1038/s41436-021-01286-8","title":"Expanded phenotype of AARS1-related white matter disease","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University Health Centre","funders":"National Health and Medical Research Council; Canadian Institutes of Health Research; Ministero della Salute; Deutsche Forschungsgemeinschaft","keywords":"Disease; White matter; Phenotype; Neuroimaging; Leukoencephalopathy; Medicine; Age of onset; Clinical phenotype; Encephalopathy; Epilepsy; Pediatrics; Biology; Pathology; Internal medicine; Magnetic resonance imaging; Genetics; Psychiatry","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":[0.0002781975,0.002206107,0.0007266783,0.001561164,0.0005384181,0.0003612057,0.0006575772,0.001476763,0.01303615],"category_scores_gemma":[0.0006094984,0.0001967574,0.0004224908,0.0005026771,0.0007620426,0.0003104714,0.0005806363,0.0009223862,0.001580659],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001897976,"about_ca_system_score_gemma":0.0003373107,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009691571,"about_ca_topic_score_gemma":0.0006522233,"domain_scores_codex":[0.9996575,0.00006416284,0.00004093105,0.0001009926,0.0001026873,0.00003369957],"domain_scores_gemma":[0.9993559,0.0001830977,0.0001757388,0.00004794275,0.00006708179,0.0001703249],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009965248,0.000212604,0.0055516,0.0001950058,0.0001129043,0.08233983,0.0003969353,0.0005389084,0.8949066,0.001647705,0.001719128,0.01138233],"study_design_scores_gemma":[0.0003429805,0.001741597,0.2096062,0.0001764581,0.0007648256,0.4212829,0.000669131,0.006602922,0.3279756,0.006397381,0.02426478,0.0001752068],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9794937,0.001021149,0.00589002,0.0006572331,0.0002588494,0.00006143565,0.002111957,0.0006865133,0.00981913],"genre_scores_gemma":[0.987639,0.0005348818,0.003526043,0.0001684967,0.0001770206,0.00003575797,0.0008944566,0.0001341956,0.006890127],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01303615,"threshold_uncertainty_score":0.04361033,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01130568379859694,"score_gpt":0.2572178387814754,"score_spread":0.2459121549828785,"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."}}