{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch","metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003327165,0.0004506995,0.0005802987,0.0001352686,0.00007145987,0.00008226371,0.001415364,0.0003181455,0.0001103713],"category_scores_gemma":[0.01133142,0.00043571,0.0002031531,0.0004950587,0.0001989755,0.000164525,0.0007172193,0.001143679,0.0002043576],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006143012,"about_ca_system_score_gemma":0.0001855977,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002785005,"about_ca_topic_score_gemma":0.00006906709,"domain_scores_codex":[0.9962515,0.0002824544,0.0006055761,0.001748386,0.0004479388,0.0006641727],"domain_scores_gemma":[0.9969833,0.001811795,0.0002101401,0.0007235567,0.00003749981,0.0002336492],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001919144,0.0009054783,0.1175547,0.003989359,0.00003747444,0.003731736,0.001919222,0.01334862,0.8338742,0.001720262,0.01171926,0.009280546],"study_design_scores_gemma":[0.004652085,0.003119502,0.5329465,0.00450656,0.0001714152,0.00006945237,0.0001597287,0.174935,0.09955335,0.1550054,0.01938139,0.005499632],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9786333,0.000292634,0.004312383,0.01182229,0.001901435,0.00200888,0.0001045071,0.0002249511,0.0006995981],"genre_scores_gemma":[0.9934574,0.000455229,0.0007583672,0.004309221,0.0002395958,0.0006521702,0.000005814136,0.00006244753,0.00005970349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7343208,"threshold_uncertainty_score":0.9998094,"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."}}