{"id":"W4393201966","doi":"10.1101/2024.03.21.24304693","title":"The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Menzies Centre for Australian Studies, King's College London, University of London; Engineering and Physical Sciences Research Council; Medical Research Council; NIHR Maudsley Biomedical Research Centre; Horizon 2020 Framework Programme; King's College London; Economic and Social Research Council; European Commission; South London and Maudsley NHS Foundation Trust; Motor Neurone Disease Association; MND Scotland; Department of Health and Social Care; National Institute for Health and Care Research; EU Joint Programme – Neurodegenerative Disease Research; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Maudsley Charity; Scottish Government; Wellcome Trust","keywords":"Amyotrophic lateral sclerosis; Genetic counseling; Medicine; Psychology; Neuroscience; Physical medicine and rehabilitation; Genetics; Disease; Biology; 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":[0.0001515096,0.0002673335,0.0003544487,0.0001218577,0.0001962522,0.0001130819,0.0003071753,0.0002017198,0.00003166746],"category_scores_gemma":[0.00005859502,0.0001772742,0.0001639956,0.0002527061,0.0004826186,0.000004287749,0.0002138918,0.0008218883,0.000009848199],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001942937,"about_ca_system_score_gemma":0.0003188921,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005541933,"about_ca_topic_score_gemma":0.00004133768,"domain_scores_codex":[0.9982727,0.00009823685,0.0003842276,0.0005325617,0.0003793214,0.0003329427],"domain_scores_gemma":[0.9984611,0.0001419156,0.0001553772,0.000872971,0.0002309318,0.0001376739],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001086898,0.0001454373,0.2256229,0.002813285,0.00150144,0.00003485575,0.001313443,0.0003505703,0.6891008,0.0007180651,0.0003818835,0.07790864],"study_design_scores_gemma":[0.0006591118,0.0002965719,0.9382654,0.0006311661,0.001045255,0.0001723802,0.00002656775,0.002728037,0.007973808,0.04261148,0.005242378,0.0003478322],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9351494,0.0610574,0.00007165398,0.002560232,0.0001728171,0.0008296527,0.00004915024,0.00004967399,0.00006007118],"genre_scores_gemma":[0.9846346,0.01439176,0.0003541998,0.0001264841,0.0001174053,0.00006161078,0.00001336998,0.00006960267,0.0002309914],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7126426,"threshold_uncertainty_score":0.7229031,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06966493892258101,"score_gpt":0.3045126790448522,"score_spread":0.2348477401222712,"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."}}