{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000179683,0.0002378629,0.0002411988,0.00008781163,0.0001133054,0.00005698191,0.0003749106,0.00007929791,0.0003326349],"category_scores_gemma":[0.002290747,0.0002435979,0.000116064,0.0006785278,0.000119475,0.0003049664,0.0001170243,0.0001949997,0.00006262785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007028259,"about_ca_system_score_gemma":0.00009530081,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000464646,"about_ca_topic_score_gemma":0.0009659409,"domain_scores_codex":[0.997613,0.0001368046,0.0003821282,0.00087093,0.0003494182,0.0006477576],"domain_scores_gemma":[0.9986197,0.0007594071,0.00007440737,0.0004044204,0.00003055189,0.0001115126],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0007194065,0.002543214,0.08545743,0.0004635686,0.00002832251,0.000415578,0.001030631,0.008772336,0.8237245,0.009400364,0.02573261,0.04171201],"study_design_scores_gemma":[0.00979439,0.002371148,0.2333807,0.0007007778,0.00006302496,0.000003095677,0.00218022,0.03715788,0.1807207,0.5091444,0.02169058,0.002793009],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.964159,0.0005749929,0.006890211,0.02176129,0.0009107189,0.00149303,0.00004599379,0.0001427983,0.004021981],"genre_scores_gemma":[0.9739819,0.0007359299,0.0004165173,0.02404762,0.0000350207,0.0003651672,0.00000539221,0.0000311597,0.0003812988],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6430038,"threshold_uncertainty_score":0.9933633,"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."}}