{"id":"W3203631914","doi":"10.1080/21678421.2021.1980890","title":"Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices","year":2021,"lang":"en","type":"article","venue":"Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; University of Saskatchewan; Queen's University; Stan Cassidy Foundation; University of Alberta; Sunnybrook Health Science Centre; University of British Columbia; Centre Hospitalier Universitaire de Sherbrooke; University of British Columbia, Okanagan Campus; St. Joseph’s Healthcare Hamilton; Trillium Health Centre; Centre Hospitalier de l’Université de Montréal; Université Laval; McMaster University; Centre intégré de santé et de services sociaux de Chaudière-Appalaches; Health Sciences Centre; Ottawa Hospital; Kingston Health Sciences Centre; McGill University; Montreal Neurological Institute and Hospital","funders":"Biogen","keywords":"Genetic testing; Genetic counseling; Medicine; Amyotrophic lateral sclerosis; Family medicine; Health care; Disease; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005211697,0.0004872495,0.0009421841,0.0001905373,0.000272626,0.0002021781,0.0002104938,0.0002040741,0.0001080116],"category_scores_gemma":[0.0002412019,0.000433806,0.0001470548,0.0005570104,0.0001214369,0.0007194213,0.0001590472,0.0004823147,0.00000158773],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001064168,"about_ca_system_score_gemma":0.002565291,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.3486997,"about_ca_topic_score_gemma":0.3782087,"domain_scores_codex":[0.9954988,0.0004140914,0.001279709,0.001060804,0.0009146135,0.0008320288],"domain_scores_gemma":[0.997281,0.0001456992,0.0007214254,0.0005963006,0.0007714184,0.0004842284],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002263321,0.0003532739,0.6430493,0.000308752,0.00007126828,0.00003869443,0.0001309105,0.0008581264,0.3328263,0.000151231,0.0001530914,0.02183278],"study_design_scores_gemma":[0.003098191,0.0007817196,0.9406998,0.000614498,0.0001163085,0.00003115979,0.00004473643,0.05128003,0.002582924,0.0001936189,0.0001204705,0.0004365177],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944946,0.002076101,0.0004679998,0.001252417,0.0004289079,0.00108743,0.0001061783,0.00004032536,0.00004610913],"genre_scores_gemma":[0.9792404,0.0009191092,0.0183639,0.0002800839,0.0004864303,0.0002236663,0.0003418158,0.00007654853,0.00006800508],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3302433,"threshold_uncertainty_score":0.9998114,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1288603014903408,"score_gpt":0.3560756255087371,"score_spread":0.2272153240183964,"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."}}