{"id":"W3171788008","doi":"10.1101/2021.06.03.446863","title":"Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3′UTR in Amyotrophic Lateral Sclerosis","year":2021,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Stichting ALS Nederland; Council for Higher Education; Knut och Alice Wallenbergs Stiftelse; Fonds Wetenschappelijk Onderzoek; Vlaamse regering; Wolfson Family Charitable Trust; Tow Foundation; Weizmann Institute of Science; King's College London; Division of Chemistry; ALS Association; John Douglas French Alzheimer's Foundation; E-Rare; KU Leuven; New York Genome Center; Science Foundation Ireland; U.S. Department of Defense; Eli Lilly and Company; Wellcome Trust; National Institute for Health and Care Research; Medical Research Council; Teva Pharmaceutical Industries; Motor Neurone Disease Association; South London and Maudsley NHS Foundation Trust; New York Stem Cell Foundation; Tau Consortium; Ulla-Carin Lindquists stiftelse för ALS-forskning; National Heart, Lung, and Blood Institute; Health~Holland; Legacy Heritage Fund; ALS Society of Canada; European Commission","keywords":"Amyotrophic lateral sclerosis; C9orf72; Untranslated region; Three prime untranslated region; Biology; Coding region; Genetics; Microglia; Messenger RNA; Gene; Medicine; Disease; Allele; Immunology; Inflammation; Trinucleotide repeat expansion; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000482062,0.0002538631,0.0002673021,0.0004189285,0.0002702778,0.0003736381,0.0001744003,0.0004302078,0.005815792],"category_scores_gemma":[0.001524315,0.00009676257,0.0002401814,0.0004139247,0.0001605363,0.0001162203,0.0002099333,0.0002776824,0.001116917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001393239,"about_ca_system_score_gemma":0.0001907881,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005418933,"about_ca_topic_score_gemma":0.001046877,"domain_scores_codex":[0.9997466,0.00005705713,0.00002938899,0.00007488362,0.00007745485,0.00001457792],"domain_scores_gemma":[0.9991632,0.000459081,0.0001549037,0.00005546942,0.000107638,0.00005965961],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.003687839,0.0001733012,0.2538984,0.001359303,0.0007932702,0.007269529,0.0007424691,0.001951016,0.4559762,0.00423119,0.177476,0.09244142],"study_design_scores_gemma":[0.0002707609,0.0008630763,0.7385745,0.0002891652,0.0008625078,0.01311377,0.0003724516,0.006575309,0.1058459,0.007127568,0.1259936,0.0001114428],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9445463,0.006673323,0.01077192,0.008797511,0.004212153,0.00004654895,0.02016709,0.00073655,0.004048592],"genre_scores_gemma":[0.9693331,0.001711407,0.008095932,0.002394088,0.001511292,0.00004658585,0.009272393,0.0003176399,0.007317634],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005815792,"threshold_uncertainty_score":0.01945579,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0346980755391938,"score_gpt":0.2698714389076718,"score_spread":0.235173363368478,"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."}}