{"id":"W4412520712","doi":"10.1093/brain/awaf269","title":"Neurodegenerative disease in <i>C9orf72</i> repeat expansion carriers: population risk and effect of <i>UNC13A</i>","year":2025,"lang":"en","type":"article","venue":"Brain","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council Canada; Motor Neurone Disease Association","keywords":"C9orf72; Disease; Population; Trinucleotide repeat expansion; Neuroscience; Medicine; Psychology; Frontotemporal dementia; Dementia; Biology; Internal medicine; Genetics; Environmental health; Allele","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000197263,0.00009370338,0.0001311133,0.00005860214,0.00003665947,0.000005804171,0.00004164541,0.00008449866,0.000004655311],"category_scores_gemma":[0.0005679631,0.00008332358,0.00004319736,0.00009602898,0.0000370957,0.000002926408,0.00004744442,0.00006185412,6.375101e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005527019,"about_ca_system_score_gemma":0.0000237318,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001093362,"about_ca_topic_score_gemma":0.000121034,"domain_scores_codex":[0.9990848,0.0003549202,0.0001527591,0.0002700893,0.00004646121,0.00009100188],"domain_scores_gemma":[0.9996329,0.00004997586,0.00005200352,0.0002012924,0.00001935725,0.00004447232],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0008422848,0.00001954612,0.3307045,0.00004427573,0.00000989691,0.000005024373,0.00004798775,0.0002733619,0.6597958,0.0001258587,0.003680788,0.004450704],"study_design_scores_gemma":[0.005067663,0.001330654,0.327586,0.0001176227,0.0001005577,0.000006584181,0.00005481178,0.0007414734,0.6387528,0.0005308461,0.02529194,0.0004190496],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974372,0.0005936432,0.0009608469,0.0001877715,0.000274527,0.0002212488,0.00002936813,0.00000633178,0.0002890437],"genre_scores_gemma":[0.9985319,0.00008982413,0.00008538349,0.0004291305,0.00006012181,0.00001937933,0.0001284939,0.00000657333,0.0006491768],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02161115,"threshold_uncertainty_score":0.3397837,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003228021363000298,"score_gpt":0.2366371188658421,"score_spread":0.2334090975028418,"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."}}