{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001686016,0.0003672451,0.0002492979,0.0009323704,0.0004926928,0.0003355243,0.0002229289,0.0002119343,0.003206045],"category_scores_gemma":[0.0006532478,0.00008559485,0.0001688626,0.0006295419,0.0003103234,0.00007285392,0.0003624788,0.000144815,0.0002732187],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007017754,"about_ca_system_score_gemma":0.0008007861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03658246,"about_ca_topic_score_gemma":0.03112108,"domain_scores_codex":[0.9998451,0.00001889156,0.00001492016,0.00003920456,0.00005155357,0.0000302168],"domain_scores_gemma":[0.99984,0.00003777297,0.00003271367,0.000008829814,0.00004172598,0.00003898603],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006383448,0.00009451375,0.8224603,0.0002009755,0.000212173,0.03683173,0.001010456,0.001034347,0.08692331,0.0004741276,0.001408795,0.04871089],"study_design_scores_gemma":[0.0000314514,0.000145599,0.9443519,0.00004754535,0.00009567089,0.04084565,0.0004512868,0.0009306507,0.009868593,0.0002178214,0.003001789,0.00001197786],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9971679,0.0002961179,0.0003258943,0.00006784236,0.000003933969,0.00001465711,0.000557803,0.00001328279,0.001552641],"genre_scores_gemma":[0.9983772,0.0001767138,0.00036435,0.00002832284,0.000004923401,0.000004857353,0.0004236031,0.000005179746,0.0006148433],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03658246,"threshold_uncertainty_score":0.07273906,"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."}}