{"id":"W4221081445","doi":"10.1016/j.neuron.2021.12.019","title":"Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis","year":2022,"lang":"en","type":"article","venue":"Neuron","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":122,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; NIHR Sheffield Biomedical Research Centre; National Institute on Handicapped Research; Medical Research Council; National Institutes of Health; Stichting ALS Nederland; Agentschap voor Innovatie door Wetenschap en Technologie; National Human Genome Research Institute; Wellcome Trust; Academy of Medical Sciences; European Commission; Motor Neurone Disease Association; KU Leuven; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research","keywords":"Amyotrophic lateral sclerosis; Genome-wide association study; Biology; Induced pluripotent stem cell; Transcriptome; Genetic association; Neuroscience; Motor neuron; Genetics; Candidate gene; Gene; Computational biology; Genomics; Genome; Disease; Medicine; Single-nucleotide polymorphism; Pathology; Gene expression; Genotype; Embryonic stem cell","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007205966,0.000309978,0.0002909811,0.0008010532,0.0001899853,0.0003757209,0.0002094361,0.0004239581,0.001151606],"category_scores_gemma":[0.001127462,0.0001285815,0.0003505188,0.0007143959,0.0001808131,0.0001057622,0.000336916,0.0003858254,0.000172614],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001028489,"about_ca_system_score_gemma":0.0001387319,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001216188,"about_ca_topic_score_gemma":0.001765521,"domain_scores_codex":[0.9996136,0.0001020327,0.00002764182,0.0001638596,0.00006561817,0.00002723318],"domain_scores_gemma":[0.9995301,0.0002313605,0.0001072583,0.00004747334,0.00003543987,0.00004849395],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001966417,0.000166145,0.6893891,0.0002774711,0.002929263,0.003502713,0.0003775845,0.003758301,0.238558,0.001645393,0.002529172,0.05490039],"study_design_scores_gemma":[0.00005256335,0.0001043062,0.9881014,0.00001767939,0.0004150396,0.001190295,0.00006654023,0.003306032,0.00417724,0.0008062682,0.001746804,0.00001578279],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921559,0.0009863738,0.003412393,0.0002187449,0.00001665812,0.00001534388,0.002160361,0.0001028509,0.0009312719],"genre_scores_gemma":[0.996479,0.0002961143,0.00161292,0.0001041464,0.0000172588,0.00001166235,0.001216343,0.00001911355,0.000243476],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001216188,"threshold_uncertainty_score":0.003852487,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03160731275335782,"score_gpt":0.2555657783523158,"score_spread":0.2239584655989579,"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."}}