{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003068634,0.000248496,0.0005322307,0.00036221,0.0003909657,0.00002445018,0.0004758367,0.0001228611,0.001513775],"category_scores_gemma":[0.0007791496,0.0002417586,0.0003457632,0.001838549,0.0006434842,0.00008686606,0.0003461084,0.0006733738,0.00001467468],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002082493,"about_ca_system_score_gemma":0.00004652896,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001104452,"about_ca_topic_score_gemma":0.00005100037,"domain_scores_codex":[0.996366,0.000983385,0.000792778,0.0008679667,0.0005346059,0.00045526],"domain_scores_gemma":[0.9980282,0.001051831,0.0002951455,0.0004251496,0.00001621916,0.0001835048],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001147524,0.001561124,0.5123016,0.00005843368,0.002647379,0.0003117648,0.002160627,0.223824,0.008377942,0.006568023,0.001745273,0.2392964],"study_design_scores_gemma":[0.002714729,0.001558892,0.6955664,0.000003283449,0.001870604,0.00003887228,0.0004047672,0.2175362,0.0001136177,0.01362597,0.06576719,0.0007995225],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959565,0.0004611053,0.00009469386,0.000762955,0.0004905359,0.0003118592,0.00008786123,0.0001085109,0.001725984],"genre_scores_gemma":[0.9983222,0.0007765305,0.00008903712,0.0006733676,0.00001141199,0.00002899026,0.00001272168,0.00002792663,0.00005784784],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2384969,"threshold_uncertainty_score":0.9993989,"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."}}