{"id":"W7161937866","doi":"10.82308/24364","title":"Genetics of hereditary spastic paraplegia","year":2021,"lang":"en","type":"dissertation","venue":"","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Hereditary spastic paraplegia; Genetic heterogeneity; Sanger sequencing; Exome sequencing; Spasticity; Gene; Genetic counseling; Genetic testing; Spastic","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.00004804481,0.0002874995,0.0004107029,0.00009852981,0.00004692087,0.00001893379,0.0004443657,0.0003303626,0.002769911],"category_scores_gemma":[0.001022768,0.0002621649,0.0001803147,0.0003577635,0.00008551627,0.00005259679,0.00004779924,0.0003946895,0.0001145902],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009507233,"about_ca_system_score_gemma":0.0001586359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002387996,"about_ca_topic_score_gemma":0.0001181639,"domain_scores_codex":[0.9979007,0.0001609486,0.0004498581,0.0006636052,0.0005134077,0.0003114905],"domain_scores_gemma":[0.9987792,0.0004327635,0.0001750554,0.0004311985,0.00007483298,0.0001068995],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000503956,0.001586656,0.0009098914,0.001858681,0.00009412137,0.003288778,0.0009111902,0.001015929,0.8869835,0.00656642,0.063154,0.03312689],"study_design_scores_gemma":[0.0009906124,0.001478948,0.02659614,0.0002089353,0.0002205507,0.00009073603,0.001533731,0.001448671,0.9473433,0.006737465,0.011826,0.001524844],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8915398,0.0006260081,0.00003432342,0.00009796525,0.002629914,0.0002905924,0.00006704048,0.00009835825,0.1046161],"genre_scores_gemma":[0.9848696,0.0005609891,0.0002107646,0.0007748936,0.0001648958,0.0000219491,0.0003066745,0.00005721548,0.01303304],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09332982,"threshold_uncertainty_score":0.9999831,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03517751520054344,"score_gpt":0.2818785923429591,"score_spread":0.2467010771424157,"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."}}