{"id":"W3084271221","doi":"10.1212/nxg.0000000000000515","title":"Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability","year":2020,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto; University Health Network","funders":"","keywords":"Biology; Parkinsonism; Phenotype; Genetics; Neurodegeneration; Multiplex ligation-dependent probe amplification; Tauopathy; Genetic architecture; Gene; Pathology; Medicine; Disease; Exon","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00008286154,0.0003480307,0.000444798,0.00004820497,0.0001917413,0.00003969338,0.0005872771,0.0001601908,0.00008167254],"category_scores_gemma":[0.001075856,0.0002659158,0.0001576759,0.0003120757,0.0004258943,0.0000222135,0.0001984056,0.000374331,0.00003643911],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005033133,"about_ca_system_score_gemma":0.0001112177,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006192038,"about_ca_topic_score_gemma":0.000003536618,"domain_scores_codex":[0.9972175,0.0003174091,0.0003394725,0.001191088,0.0002779726,0.0006565786],"domain_scores_gemma":[0.9981116,0.0007409733,0.000136623,0.0005082188,0.00006302683,0.0004395611],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002359525,0.0002984482,0.001129013,0.0000514591,0.00001108487,0.00007424517,0.0001443234,0.003538029,0.9851092,0.00127797,0.0001961696,0.005810585],"study_design_scores_gemma":[0.009278205,0.01790742,0.5872124,0.000009236564,0.0006570991,0.0005885564,0.0000216949,0.03485802,0.07847881,0.01251879,0.2568586,0.001611261],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9431576,0.00007925685,0.04724769,0.007397344,0.0002127624,0.001145115,0.0002328612,0.0001141078,0.0004132665],"genre_scores_gemma":[0.9060036,0.00005893024,0.005956871,0.08754686,0.0002439193,0.0001213973,0.000004110278,0.00005128955,0.00001303292],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9066303,"threshold_uncertainty_score":0.9999793,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05290714783277106,"score_gpt":0.2674530148374122,"score_spread":0.2145458670046412,"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."}}