{"id":"W2914530644","doi":"10.1080/01677063.2019.1566326","title":"High diagnostic yield and novel variants in very late-onset spasticity","year":2019,"lang":"en","type":"article","venue":"Journal of Neurogenetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"","keywords":"Cohort; Genetic testing; Genetics; Genotype; Biology; Phenotype; Mutation; DNA sequencing; Medicine; Internal medicine; Gene","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":[0.0001585777,0.00015349,0.0002805743,0.0001394445,0.00002893353,0.0000392233,0.0002907634,0.00008702137,0.00008224451],"category_scores_gemma":[0.005602929,0.0001319057,0.00005641017,0.0002462826,0.00008520464,0.0001126596,0.00011471,0.0004697407,0.00003307909],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001191602,"about_ca_system_score_gemma":0.0000513978,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007146406,"about_ca_topic_score_gemma":0.000005635887,"domain_scores_codex":[0.9985532,0.0001096519,0.0004554867,0.0002552504,0.0003402939,0.0002861173],"domain_scores_gemma":[0.9966364,0.002797273,0.0002088001,0.0001725769,0.00003284834,0.0001521246],"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":[0.0002661902,0.0007414691,0.2609762,0.00004568977,0.00001080198,0.002168245,0.0000824062,0.01895035,0.7152544,0.0002113701,0.0004530425,0.0008398918],"study_design_scores_gemma":[0.00142374,0.001534674,0.963123,0.00005501303,0.00002602201,0.0008282691,0.000009809697,0.001956669,0.02928384,0.001104133,0.000445265,0.0002095321],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978293,0.00005135887,0.0001256929,0.0008793976,0.0008352064,0.0001488828,0.00001974092,0.00000910151,0.0001013388],"genre_scores_gemma":[0.9968592,0.0003921762,0.0001769609,0.002476515,0.00006018248,8.260748e-7,1.711422e-7,0.00001850218,0.00001548322],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7021468,"threshold_uncertainty_score":0.6707634,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03316971865219483,"score_gpt":0.2402264213715676,"score_spread":0.2070567027193728,"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."}}