{"id":"W3048885206","doi":"10.1002/acn3.51151","title":"Neuronal intranuclear inclusion disease is genetically heterogeneous","year":2020,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto","funders":"Rosetrees Trust; University College London Hospitals NHS Foundation Trust; Ataxia UK; Parkinson's UK; Department of Health and Social Care; National Institute for Health and Care Research; Brain Research UK; UCLH Biomedical Research Centre; Cancer Research UK; Wellcome Trust; Medical Research Council; Wellcome","keywords":"Eosinophilic; Disease; Medicine; Genome; Pathology; Pathological; In silico; Haplotype; Inclusion bodies; Trinucleotide repeat expansion; Genetics; Gene; Biology; Allele","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001228984,0.0001789093,0.0003424656,0.0000376504,0.000153051,0.00001299862,0.0002577444,0.0000859798,0.0002885222],"category_scores_gemma":[0.0008500224,0.0001649264,0.0002256508,0.0001269058,0.0006754628,0.00006171614,0.0002285626,0.0002507872,0.00002805426],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":5.610065e-8,"about_ca_system_score_gemma":0.00007814698,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":9.890728e-7,"about_ca_topic_score_gemma":4.393011e-7,"domain_scores_codex":[0.9973679,0.0005308178,0.000738196,0.0007278618,0.0003948781,0.0002403282],"domain_scores_gemma":[0.998129,0.0008980025,0.0001265011,0.0001605238,0.00008393462,0.0006020179],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.03634055,0.004402522,0.5131071,0.0005122047,0.0001819897,0.001000931,0.00164711,0.01433219,0.228294,0.04587059,0.005836197,0.1484747],"study_design_scores_gemma":[0.001994338,0.002188208,0.7702847,0.000007519464,0.00006786188,0.00001640216,7.682827e-7,0.02313214,0.1497312,0.02893917,0.02324324,0.000394441],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8647868,0.0001431379,0.0001880021,0.1342932,0.0001016858,0.0001614611,0.0001673225,0.00002781827,0.0001305357],"genre_scores_gemma":[0.843155,0.0004821705,0.00007502855,0.1560866,0.0001697295,0.00000370308,0.00000494871,0.00001824431,0.000004578905],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2571777,"threshold_uncertainty_score":0.6725503,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.160728415153868,"score_gpt":0.3842464485884098,"score_spread":0.2235180334345419,"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."}}