{"id":"W3124559005","doi":"10.1126/sciadv.abd9036","title":"Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types","year":2021,"lang":"en","type":"article","venue":"Science Advances","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":100,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute on Minority Health and Health Disparities; National Institute of Environmental Health Sciences; National Institute of Neurological Disorders and Stroke; National Cancer Institute; National Eye Institute; National Institute on Drug Abuse; Medical Research Council; Substance Abuse and Mental Health Services Administration; Division of Cancer Epidemiology and Genetics, National Cancer Institute; Ministero della Salute; Vrije Universiteit Amsterdam; National Institute on Aging; National Institute for Health and Care Research; European Commission; Broad Institute; Target ALS; University of Manchester; Consortium canadien en neurodégénérescence associée au vieillissement; National Human Genome Research Institute; Health Resources and Services Administration; ALS Association; Wellcome Trust; National Heart, Lung, and Blood Institute; Microsoft Research; Women's Health Initiative; Ministero dell’Istruzione, dell’Università e della Ricerca; Johns Hopkins University; Muscular Dystrophy Association; U.S. Department of Veterans Affairs; Case Western Reserve University; National Institutes of Health; U.S. Department of Health and Human Services; Cardiff University; Howard Hughes Medical Institute","keywords":"Amyotrophic lateral sclerosis; Pathogenesis; Cell type; Neuroscience; Biology; Cell; Medicine; Genetics; Disease; Pathology; Immunology","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":[0.0003072344,0.0004252837,0.0002500523,0.0009233574,0.0004054068,0.0006053901,0.000319732,0.0004265916,0.003633208],"category_scores_gemma":[0.000477149,0.0001854661,0.0003603132,0.0005072561,0.0005121625,0.0004520557,0.0004978979,0.0006190499,0.0009933349],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003526431,"about_ca_system_score_gemma":0.0004533153,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001179602,"about_ca_topic_score_gemma":0.002214406,"domain_scores_codex":[0.9997866,0.00003811706,0.00001731532,0.00006329655,0.00005560421,0.0000391597],"domain_scores_gemma":[0.9996325,0.00008212829,0.00008532827,0.00006515124,0.00005943323,0.0000754683],"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":[0.0003956604,0.00005736812,0.01868592,0.00009648092,0.00005085909,0.001289112,0.0001132785,0.0003693123,0.9614375,0.002869752,0.0003602089,0.01427448],"study_design_scores_gemma":[0.00009505934,0.0005428551,0.3475365,0.0001568485,0.0003657241,0.009039521,0.001060394,0.003029929,0.5966076,0.01719394,0.02430027,0.00007130556],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.973003,0.002632284,0.01404789,0.0006436749,0.0001184919,0.00006696764,0.001172125,0.0003378313,0.007977709],"genre_scores_gemma":[0.9803118,0.001358767,0.01139743,0.0001767439,0.00002524645,0.00007054497,0.001112957,0.00003631424,0.005510323],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003633208,"threshold_uncertainty_score":0.01215428,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02686559285034509,"score_gpt":0.2923780409047787,"score_spread":0.2655124480544336,"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."}}