{"id":"W4225252429","doi":"10.1016/j.parkreldis.2022.03.019","title":"Genetic, structural and clinical analysis of spastic paraplegia 4","year":2022,"lang":"en","type":"article","venue":"Parkinsonism & Related Disorders","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; Université Laval; McGill University; University of Ottawa; Hospital for Sick Children; SickKids Foundation; Montreal Neurological Institute and Hospital; Université de Sherbrooke; University of Toronto; McMaster University; Alberta Children's Hospital; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research","keywords":"Hereditary spastic paraplegia; Genetics; Multiplex ligation-dependent probe amplification; Mutation; Genetic heterogeneity; Genotype; Copy-number variation; Biology; Exome sequencing; Gene; Medicine; Phenotype; Exon; Genome","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":[0.0002687138,0.0009206969,0.0003476816,0.002354959,0.0009021375,0.0004401661,0.0004853996,0.0008053873,0.007053519],"category_scores_gemma":[0.0012594,0.0002717455,0.000423176,0.0009990571,0.0007154922,0.0003021599,0.0005384904,0.0003136945,0.000536686],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004340608,"about_ca_system_score_gemma":0.0006362218,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006441221,"about_ca_topic_score_gemma":0.005187592,"domain_scores_codex":[0.9996947,0.00005218258,0.00003938917,0.0000798154,0.00006856844,0.00006539639],"domain_scores_gemma":[0.9995691,0.0001575766,0.00009460308,0.00001863224,0.00008888358,0.00007111514],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002768067,0.0006030708,0.4960071,0.0002388249,0.0003328533,0.2918995,0.001481112,0.001518297,0.1708452,0.003383535,0.002281202,0.02864122],"study_design_scores_gemma":[0.00008214027,0.0006731029,0.8022091,0.00006506896,0.0003452046,0.1707684,0.000631453,0.001916715,0.01896607,0.001463135,0.002833287,0.00004631764],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923815,0.0002691374,0.0006350701,0.0002212771,0.0000150964,0.00003119731,0.000640692,0.00002846459,0.005777521],"genre_scores_gemma":[0.9977253,0.0001318689,0.0004456916,0.00007032242,0.00002102937,0.000007441783,0.000305354,0.0000133667,0.001279513],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007053519,"threshold_uncertainty_score":0.02359641,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01973089503311105,"score_gpt":0.281625994044325,"score_spread":0.2618950990112139,"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."}}