{"id":"W4407431956","doi":"10.1136/jnnp-2024-335364","title":"Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications","year":2025,"lang":"en","type":"article","venue":"Journal of Neurology Neurosurgery & Psychiatry","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Menzies Centre for Australian Studies, King's College London, University of London; Economic and Social Research Council; Horizon 2020 Framework Programme; Health and Social Care Research and Development Division; Spastic Paraplegia Foundation; Motor Neurone Disease Association; Public Health Agency; Rosetrees Trust; King's College London; National Institute for Health and Care Research; Montreal Neurological Institute and Hospital; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Scottish Government; EU Joint Programme – Neurodegenerative Disease Research; British Heart Foundation; Medical Research Council; Department of Health and Social Care; MND Scotland; Wellcome Trust; Michael J. Fox Foundation for Parkinson's Research; ALS Association; Alzheimer’s Research UK; Fondation Brain Canada; South London and Maudsley NHS Foundation Trust; Maudsley Charity; Engineering and Physical Sciences Research Council; ALS Society of Canada","keywords":"Amyotrophic lateral sclerosis; Disease; Medicine; Genetic testing; Genetic counseling; Clinical trial; Bioinformatics; Genetics; Biology; Internal medicine","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":[0.004214109,0.0005087793,0.0005590754,0.001199068,0.0008703061,0.001213705,0.0007584307,0.0007375772,0.002818155],"category_scores_gemma":[0.0183853,0.0002541213,0.0004253788,0.001467204,0.001281342,0.0007138382,0.001599991,0.0009513434,0.0003376987],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006516094,"about_ca_system_score_gemma":0.001034667,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003196991,"about_ca_topic_score_gemma":0.00473638,"domain_scores_codex":[0.9960878,0.001837069,0.000254147,0.0008834506,0.0007150775,0.0002225373],"domain_scores_gemma":[0.9853061,0.008411959,0.003593008,0.001206664,0.0009315221,0.0005505725],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0005222606,0.0001010869,0.9264022,0.0001969438,0.0003348913,0.004333117,0.001085746,0.0008688205,0.003176866,0.002843292,0.001585266,0.05854952],"study_design_scores_gemma":[0.00004604596,0.0002329363,0.9411409,0.0005961177,0.00051931,0.01882245,0.001051783,0.004253778,0.00219787,0.02233831,0.008723833,0.00007659187],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9801254,0.003899074,0.009236513,0.002555161,0.00006551445,0.00004591406,0.0008698069,0.00006217845,0.003140441],"genre_scores_gemma":[0.9948792,0.0008401973,0.003238517,0.0003340346,0.00006078721,0.00002757305,0.0003657417,0.00001932948,0.0002345488],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004214109,"threshold_uncertainty_score":0.02228659,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04491371103832626,"score_gpt":0.2877623664973307,"score_spread":0.2428486554590045,"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."}}