{"id":"W3186444178","doi":"10.1101/2021.07.20.21259482","title":"Genetic, structural and clinical analysis of spastic paraplegia 4","year":2021,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":3,"is_retracted":false,"has_abstract":true,"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":"Fonds de Recherche du Québec - Santé; 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; Compound heterozygosity; Medicine; Phenotype; Exon; Genome","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002288404,0.0002720708,0.0008981978,0.000213114,0.00004617912,0.0000553065,0.0005291865,0.0003109228,0.0005074504],"category_scores_gemma":[0.003259096,0.0002328834,0.0004522416,0.0006336513,0.0005323968,0.00003684053,0.0009268136,0.0007492116,0.000005523635],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007348314,"about_ca_system_score_gemma":0.00007292756,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004254733,"about_ca_topic_score_gemma":0.00008648822,"domain_scores_codex":[0.9966186,0.000772114,0.00076969,0.001149123,0.0003999384,0.0002905446],"domain_scores_gemma":[0.9975795,0.001136017,0.000298177,0.0007501523,0.00005226348,0.0001838792],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004093554,0.00008625445,0.985683,0.00008317515,0.0003682776,0.0004303248,0.00007944738,0.005201793,0.005945861,0.00008137309,0.00004025496,0.001959353],"study_design_scores_gemma":[0.0001530209,0.00008810627,0.9657436,0.00001046542,0.0008953746,0.000007808619,0.00001131935,0.03175071,0.0006276513,0.0004525346,0.00005652921,0.000202898],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978602,0.0002133413,0.0003073831,0.0002925059,0.0008206462,0.0001952332,0.00007787771,0.00004611189,0.0001867178],"genre_scores_gemma":[0.9984952,0.0005162644,0.0003936722,0.0004565762,0.00008152529,0.000008213487,0.0000127821,0.00001811777,0.00001767961],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02654892,"threshold_uncertainty_score":0.9496711,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06694548282405961,"score_gpt":0.3375826976378737,"score_spread":0.2706372148138141,"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."}}