{"id":"W4286110983","doi":"10.1038/s41431-022-01146-2","title":"The value of testing for ATXN2 intermediate repeat expansions in routine clinical practice for amyotrophic lateral sclerosis","year":2022,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University Health Centre; Montreal Neurological Institute and Hospital","funders":"Government of Canada; CIHR Skin Research Training Centre; Canadian Institutes of Health Research; Biogen","keywords":"Amyotrophic lateral sclerosis; Clinical Practice; Value (mathematics); Medicine; Genetics; Biology; Computational biology; Internal medicine; Disease; Physical therapy; Mathematics; Statistics","routes":{"ca_aff":true,"ca_fund":true,"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":[0.007299224,0.001177799,0.001311572,0.002284885,0.0007987063,0.002882123,0.001780111,0.003908717,0.002984691],"category_scores_gemma":[0.0627728,0.0006077329,0.000765208,0.001571034,0.001165433,0.002720905,0.0009385769,0.002151784,0.001068196],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001138345,"about_ca_system_score_gemma":0.002223327,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006544739,"about_ca_topic_score_gemma":0.007565993,"domain_scores_codex":[0.991172,0.003381638,0.001427612,0.001142231,0.002327338,0.0005492449],"domain_scores_gemma":[0.9474527,0.0354484,0.004709993,0.00176102,0.007971513,0.002656235],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002459402,0.0004994761,0.8401636,0.0005639362,0.0003458188,0.005625611,0.001015703,0.002720525,0.00358973,0.0007752004,0.009982614,0.1322585],"study_design_scores_gemma":[0.0002518512,0.002064754,0.9468212,0.001630383,0.0005775836,0.01546922,0.002334417,0.01413515,0.002967532,0.002706618,0.01087368,0.0001676677],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.902745,0.03187837,0.004159104,0.02488133,0.002086671,0.0001204685,0.001051485,0.0004194834,0.03265807],"genre_scores_gemma":[0.9894149,0.003033952,0.003567399,0.00188671,0.00101589,0.00004047548,0.0003073205,0.00003930534,0.0006940108],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007299224,"threshold_uncertainty_score":0.03860247,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1436083401037254,"score_gpt":0.3933599083965133,"score_spread":0.2497515682927879,"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."}}