{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001986017,0.00009637676,0.0002143509,0.0001061713,0.0001298674,0.000007960563,0.0003296917,0.00003169573,0.000613008],"category_scores_gemma":[0.00009591576,0.00007270078,0.0001465431,0.0004778147,0.0001294977,0.00003574073,0.0003167334,0.0002707984,0.00001150309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009501349,"about_ca_system_score_gemma":0.00007289023,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008580417,"about_ca_topic_score_gemma":0.000002173435,"domain_scores_codex":[0.9981326,0.0002277332,0.0004339867,0.0002404239,0.0007542704,0.0002109305],"domain_scores_gemma":[0.9989772,0.00004939159,0.0001998968,0.0006157157,0.00009722664,0.00006053481],"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":[0.0001063359,0.0001227966,0.1061574,0.00006588059,0.00002180792,0.000003265195,0.0001371003,0.0006083231,0.891632,0.00001160392,0.0001404376,0.0009930944],"study_design_scores_gemma":[0.0004863607,0.0002787739,0.967768,0.00001693029,0.00004337177,0.00000833111,0.00001276861,0.0003824559,0.03043068,0.00004396977,0.000476688,0.00005169939],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968349,0.0001153155,0.00001166932,0.002267932,0.0001551607,0.0004419384,0.00002563293,0.00001644918,0.0001310517],"genre_scores_gemma":[0.9986765,0.00009216843,0.00004195406,0.0002913317,0.00003994553,0.00004971335,0.000007939973,0.00002674216,0.0007736417],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8616106,"threshold_uncertainty_score":0.6712008,"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."}}