{"id":"W4205494230","doi":"10.1093/brain/awab472","title":"The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis","year":2021,"lang":"en","type":"article","venue":"Brain","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Economic and Social Research Council; Medical Research Council; Ministero della Salute; Fonds Wetenschappelijk Onderzoek; King's College London; Vlaamse regering; Motor Neurone Disease Association; KU Leuven; Ministero dell’Istruzione, dell’Università e della Ricerca; National Institute for Health and Care Research; EU Joint Programme – Neurodegenerative Disease Research; National Health and Medical Research Council; King’s College London","keywords":"Amyotrophic lateral sclerosis; Genetic testing; Medicine; Incidence (geometry); Psychology; Disease; Pathology; Internal medicine","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":[0.0002683749,0.0001308232,0.0002702807,0.00005951913,0.00008041383,0.00003647364,0.0001369013,0.0000599541,0.00005056039],"category_scores_gemma":[0.0005180168,0.00008506753,0.0000468945,0.000706767,0.0001499093,0.0000649775,0.0001111245,0.00028313,0.000009323077],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008678338,"about_ca_system_score_gemma":0.0002497704,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002627482,"about_ca_topic_score_gemma":0.0003598979,"domain_scores_codex":[0.998397,0.0001022024,0.0003500153,0.0002844137,0.0004438456,0.0004225383],"domain_scores_gemma":[0.9989161,0.0002961823,0.0000848056,0.0004204859,0.0001777885,0.0001046629],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001372685,0.00004995961,0.779301,0.00005355509,0.00003096417,0.0002300274,0.0001587583,0.00006949731,0.216537,0.00003158827,0.00007137526,0.003329021],"study_design_scores_gemma":[0.001177397,0.0002560081,0.9942304,0.0004869172,0.00001064323,0.00006211204,0.0000255042,0.0005980512,0.002915943,0.00006837957,0.00007241893,0.00009614976],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964303,0.0006763564,0.00003030529,0.002248524,0.00002515728,0.0002448038,0.000002466812,0.00002434475,0.0003177589],"genre_scores_gemma":[0.9959072,0.00006220144,0.002492646,0.0002643554,0.00007016744,0.00002356824,0.000002759707,0.00003155154,0.001145477],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2149295,"threshold_uncertainty_score":0.3468953,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04521810164811845,"score_gpt":0.2685626476247358,"score_spread":0.2233445459766173,"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."}}