{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001675556,0.0004183225,0.00043984,0.0005626284,0.0004059842,0.0006975337,0.0004607192,0.0008588388,0.001871978],"category_scores_gemma":[0.004102533,0.0003429962,0.0007448621,0.0007371819,0.0004555265,0.0004997791,0.0005665956,0.0006267707,0.0002796153],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002564613,"about_ca_system_score_gemma":0.0002140091,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01521743,"about_ca_topic_score_gemma":0.005951828,"domain_scores_codex":[0.9989465,0.0004240583,0.00004432552,0.0003784824,0.00007748466,0.0001292102],"domain_scores_gemma":[0.9984485,0.0004717924,0.0003857278,0.0003069363,0.0001363325,0.0002507115],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003059052,0.0002008623,0.9885549,0.00002045326,0.0005329871,0.0003366226,0.0002630325,0.0002048055,0.0008235286,0.00008707125,0.0002944756,0.00562222],"study_design_scores_gemma":[0.00006418122,0.0007765832,0.9970548,0.000008457306,0.0003527201,0.0003749732,0.0001327733,0.0007368494,0.0001074524,0.0001542914,0.00022337,0.00001355289],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989353,0.0002380109,0.0001579361,0.00004098238,0.000007519155,0.000006844232,0.0002366037,0.000009807744,0.0003669933],"genre_scores_gemma":[0.9993735,0.0001031015,0.00008973912,0.00001961026,0.00001126479,0.000006994981,0.0002091885,0.000003800477,0.0001827432],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01521743,"threshold_uncertainty_score":0.0302577,"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."}}