{"id":"W3131082731","doi":"10.1002/mds.28528","title":"Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7","year":2021,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; McMaster University; Montreal Neurological Institute and Hospital; University of Toronto; Children's Hospital of Eastern Ontario; McGill University; University of Alberta; Université Laval","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Faculty of Medicine, McGill University","keywords":"Genetics; Hereditary spastic paraplegia; Spinocerebellar ataxia; Genotype; Biology; Exome sequencing; Epistasis; Cohort; Spastic; Gene; Medicine; Mutation; Internal medicine; Phenotype","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":[0.002469596,0.001191681,0.0007538286,0.003135263,0.0008628536,0.0009240796,0.001463061,0.0009827941,0.01306708],"category_scores_gemma":[0.008279985,0.0003639593,0.0008889015,0.002596911,0.001515505,0.0002986225,0.0006384444,0.0006040343,0.0006483442],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000844347,"about_ca_system_score_gemma":0.001713266,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0223783,"about_ca_topic_score_gemma":0.01460591,"domain_scores_codex":[0.9963387,0.0008097081,0.0002997915,0.0009974119,0.001247791,0.0003065089],"domain_scores_gemma":[0.9927666,0.003553906,0.001549282,0.0006715533,0.00106209,0.0003966138],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001426502,0.0001520291,0.9094971,0.0008098106,0.002396462,0.02677223,0.0009511913,0.0005784486,0.009554535,0.00595065,0.005015513,0.03689557],"study_design_scores_gemma":[0.0003406269,0.0003842883,0.9123072,0.0003936615,0.001243173,0.06933794,0.0005175333,0.00241966,0.001699612,0.004210569,0.0070739,0.00007182817],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9646967,0.007697597,0.0086534,0.002397723,0.0002624108,0.0002052466,0.003077065,0.0003646337,0.01264525],"genre_scores_gemma":[0.9940531,0.001979408,0.001853832,0.0002284331,0.0001119414,0.00004232718,0.0008835591,0.00003707179,0.0008103643],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0223783,"threshold_uncertainty_score":0.04449606,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09269983372981302,"score_gpt":0.3144539452092014,"score_spread":0.2217541114793884,"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."}}