{"id":"W3088205339","doi":"10.1101/2020.09.25.20176032","title":"Evidence for non-Mendelian inheritance in spastic paraplegia 7","year":2020,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; McMaster University; SickKids Foundation; Montreal Neurological Institute and Hospital; University of Toronto; Children's Hospital of Eastern Ontario; McGill University; Hospital for Sick Children; University of Alberta; Université Laval","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Parkinson Canada","keywords":"Hereditary spastic paraplegia; Paraplegia; Medicine; Spastic; Exome sequencing; Mendelian inheritance; Genetics; Pediatrics; Physical therapy; Mutation; Biology; Gene; Spinal cord; Phenotype; Psychiatry","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":[0.002045491,0.001038242,0.0005875853,0.002929972,0.001046277,0.0008498807,0.001310122,0.0009408968,0.0105564],"category_scores_gemma":[0.007017076,0.0003213422,0.0008124285,0.002362234,0.001262733,0.0002573716,0.0006970732,0.0005795656,0.0004660071],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007802147,"about_ca_system_score_gemma":0.001537055,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03481716,"about_ca_topic_score_gemma":0.02386726,"domain_scores_codex":[0.9966199,0.0007080122,0.0002192456,0.0008944822,0.001225707,0.0003326457],"domain_scores_gemma":[0.9945655,0.002397921,0.001182026,0.0005349523,0.0009251313,0.0003944077],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000997917,0.0001309516,0.9413438,0.0003534913,0.001404463,0.01819183,0.0008091694,0.0003364914,0.01035881,0.003941669,0.003200775,0.01893061],"study_design_scores_gemma":[0.0002200483,0.0003022772,0.9459804,0.0002330346,0.0008341168,0.04142761,0.0005193745,0.002110968,0.001686357,0.002132803,0.00449965,0.0000533978],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9808641,0.003493128,0.00437695,0.001145641,0.0001492978,0.0001014448,0.001686931,0.0001648029,0.008017589],"genre_scores_gemma":[0.9969249,0.00078786,0.0008559556,0.0001323959,0.00006893362,0.00001850556,0.0005107256,0.00002135415,0.0006793012],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03481716,"threshold_uncertainty_score":0.06922901,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.208620605840351,"score_gpt":0.3476255784384017,"score_spread":0.1390049725980508,"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."}}