{"id":"W4412162315","doi":"10.1101/2025.07.05.24312261","title":"Digenic inheritance of mutations in <i>SPG7</i> and <i>AFG3L2</i> causes motor neuron and cerebellar disorders","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Alberta Children's Hospital; McGill University; University of Ottawa; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research; Parkinson Canada","keywords":"Inheritance (genetic algorithm); Motor neuron; Genetics; Medicine; Biology; Neuroscience; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0002149496,0.0004508892,0.0003413534,0.001478076,0.0004909608,0.0003827076,0.0002435837,0.0003221959,0.002480312],"category_scores_gemma":[0.0006242451,0.000163415,0.0003475916,0.001089488,0.0002891815,0.0001249616,0.0004719446,0.0002464167,0.0002252413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001967326,"about_ca_system_score_gemma":0.0001840506,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001939802,"about_ca_topic_score_gemma":0.004289387,"domain_scores_codex":[0.9995942,0.00004086893,0.00006233367,0.0001900735,0.00006703242,0.00004556738],"domain_scores_gemma":[0.9996573,0.0001044342,0.0001243098,0.00002755848,0.0000261657,0.00006022437],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0007790784,0.00008598294,0.8314971,0.0001229939,0.0005875033,0.01826157,0.0002543966,0.0003361659,0.1326636,0.0004452871,0.0007502974,0.01421599],"study_design_scores_gemma":[0.00003821531,0.0001370851,0.9707554,0.00003109512,0.0002889207,0.01936264,0.0001612235,0.0008961231,0.006455912,0.0003194723,0.001535603,0.00001834973],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982236,0.0001973139,0.000431974,0.00002317045,0.000005618888,0.000009915888,0.0006763241,0.00001727454,0.0004148564],"genre_scores_gemma":[0.9984445,0.0001170003,0.0004262487,0.00004939731,0.000006612849,0.000006180058,0.0007634974,0.00000704956,0.0001794697],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002480312,"threshold_uncertainty_score":0.008297443,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02446319593323974,"score_gpt":0.2629986023047574,"score_spread":0.2385354063715177,"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."}}