{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005702447,0.0006109721,0.0005719807,0.0009588996,0.0005783715,0.0006663803,0.000362083,0.000402323,0.001349616],"category_scores_gemma":[0.001362471,0.0001889331,0.0002303162,0.0009017388,0.0009262008,0.0004716549,0.001092579,0.0002585262,0.0003662303],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003015288,"about_ca_system_score_gemma":0.0002738329,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001635028,"about_ca_topic_score_gemma":0.002244885,"domain_scores_codex":[0.9994917,0.00006221225,0.00007588757,0.0002197381,0.00008455404,0.00006587016],"domain_scores_gemma":[0.9996339,0.00008852767,0.0001218082,0.00003863256,0.00005826326,0.00005880277],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001063792,0.0002108171,0.7018018,0.0002129641,0.0003893215,0.1441712,0.002309219,0.0006434108,0.1202029,0.00241849,0.001215553,0.02536064],"study_design_scores_gemma":[0.00006016397,0.0002732399,0.7185155,0.0001088018,0.000322552,0.2615756,0.001434451,0.001008238,0.009382498,0.002635055,0.004620809,0.00006306038],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968343,0.0002361878,0.0005717274,0.00004474726,0.000005445352,0.00001915043,0.0001419124,0.00001526585,0.002131287],"genre_scores_gemma":[0.9986413,0.0002460116,0.0005613573,0.00005100852,0.00001171214,0.000007135438,0.0002666276,0.00001056786,0.0002042605],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001635028,"threshold_uncertainty_score":0.004514933,"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."}}