{"id":"W3196317695","doi":"10.1001/jamaneurol.2021.2598","title":"Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis","year":2021,"lang":"en","type":"article","venue":"JAMA Neurology","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":84,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sunnybrook Health Science Centre; Montreal Neurological Institute and Hospital; University of Toronto; McGill University; Health Sciences Centre; Occupational Cancer Research Centre","funders":"National Center for Advancing Translational Sciences; U.S. National Library of Medicine; National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institute on Aging; National Health and Medical Research Council; Medical Research Council; NIHR Maudsley Biomedical Research Centre; College of Medicine, Drexel University; School of Medicine, Emory University; Uniformed Services University of the Health Sciences; National Institutes of Health; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino; Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi; UK Dementia Research Institute; Julius-Maximilians-Universität Würzburg; Karl-Franzens-Universität Graz; Henry M. Jackson Foundation; Rosetrees Trust; Università di Cagliari; Université Pierre et Marie Curie; Penn State College of Medicine; Koç Üniversitesi; University of Miami; Queen's University; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Medizinische Universität Graz; U.S. Department of Veterans Affairs; University of Pennsylvania; Consortium canadien en neurodégénérescence associée au vieillissement; Austrian Science Fund; Russian Foundation for Basic Research; Defense Health Agency; Universiteit van Amsterdam; ZonMw; Arizona State University; Ministero della Salute; Institut National de la Santé et de la Recherche Médicale; Queen's University Belfast; Oesterreichische Nationalbank; Österreichische Forschungsförderungsgesellschaft; King's College London; University of Illinois at Urbana-Champaign; Parkinson's UK; National Institute for Health and Care Research; Cleveland Clinic; Broad Institute; Alzheimer's Society; University of California, San Diego; Johns Hopkins University; Università degli Studi di Palermo; Pennsylvania State University; University of Sydney; University College London; Wellcome Trust; Università degli Studi di Torino; Erasmus Medisch Centrum; Université de Montpellier; Drexel University; National Alzheimer's Coordinating Center; EU Joint Programme – Neurodegenerative Disease Research; Vanderbilt University; Case Western Reserve University; Emory University; School of Medicine; Motor Neurone Disease Association; Temple University; European Commission; Biodesign Institute, Arizona State University; Helsingin Yliopisto; Università degli Studi di Siena; University of Toronto; U.S. Department of Health and Human Services","keywords":"Exome sequencing; Amyotrophic lateral sclerosis; Medicine; Juvenile; Pediatrics; Internal medicine; Disease; Biology; Genetics; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003393883,0.0004919101,0.0003254724,0.0008888757,0.000756554,0.0003956212,0.000368389,0.0006143223,0.002064744],"category_scores_gemma":[0.001649232,0.0002001922,0.0002905661,0.001035296,0.0004025215,0.0002042588,0.0003505923,0.0004199216,0.0001650922],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002813208,"about_ca_system_score_gemma":0.0002879331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004207767,"about_ca_topic_score_gemma":0.004910303,"domain_scores_codex":[0.9996371,0.00004751426,0.00006744378,0.0001371164,0.00007044635,0.00004029711],"domain_scores_gemma":[0.9986022,0.0003551321,0.0006719393,0.00007107277,0.0001293255,0.0001703],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00056695,0.00006150393,0.9768982,0.00003358202,0.000149804,0.009147896,0.0002105438,0.0001933076,0.009575492,0.00006985938,0.0003674528,0.00272547],"study_design_scores_gemma":[0.00005098849,0.0002150728,0.9711712,0.00001747713,0.0001243371,0.02580887,0.0001589942,0.0006055224,0.001315324,0.00008408456,0.0004351005,0.00001299214],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992421,0.0001359133,0.0001299097,0.00002755762,0.000004767866,0.000008565888,0.0001728911,0.000005881199,0.000272437],"genre_scores_gemma":[0.9993938,0.00005710797,0.0001914937,0.00002290775,0.0000112741,0.000005391558,0.0002143638,0.000003551781,0.00009990896],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004207767,"threshold_uncertainty_score":0.008366525,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02272818693837827,"score_gpt":0.251597622988912,"score_spread":0.2288694360505338,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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