{"id":"W3130868973","doi":"10.1002/mds.28518","title":"The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice","year":2021,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Proband; Genetics; Spinocerebellar ataxia; Ataxia; Exome sequencing; Frataxin; Sanger sequencing; Medicine; Genetic heterogeneity; Population; Genetic epidemiology; Biology; Phenotype; Mutation; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0001807847,0.00008918182,0.00012134,0.00003839313,0.00007019288,0.00002646617,0.00015992,0.00002290501,0.00002657808],"category_scores_gemma":[0.001499371,0.00007579434,0.00003595045,0.0002952135,0.0001474482,0.00005497551,0.0001335672,0.0001022497,0.000002989735],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001030505,"about_ca_system_score_gemma":0.00007386218,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001119215,"about_ca_topic_score_gemma":0.0005951407,"domain_scores_codex":[0.9984903,0.0004056178,0.000406791,0.0003485944,0.0001703433,0.0001783715],"domain_scores_gemma":[0.9985501,0.0009539995,0.00009585892,0.0003166567,0.00003563164,0.0000477937],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001287474,0.002062915,0.8657905,0.00004580728,0.00001962484,0.00005254374,0.0005134089,0.005739702,0.08919798,0.005974947,0.008090023,0.02238381],"study_design_scores_gemma":[0.0007198409,0.00006461846,0.982226,0.000007181801,0.000008666473,8.919471e-7,0.000785955,0.001442322,0.006356101,0.00648324,0.001813433,0.00009171044],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9889067,0.0006544553,0.00005065947,0.008758795,0.00008859082,0.0002683442,0.00002853517,0.00000668212,0.001237227],"genre_scores_gemma":[0.9941684,0.001670217,0.0003195458,0.003713943,0.00001396768,0.00004819843,0.000005672155,0.000009278404,0.00005076626],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1164356,"threshold_uncertainty_score":0.3090804,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04403551437111782,"score_gpt":0.3376588965722942,"score_spread":0.2936233822011764,"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."}}