{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004874721,0.0001281142,0.0003746407,0.00009065092,0.00004729032,0.00002657098,0.0001779052,0.0002570039,0.0002501257],"category_scores_gemma":[0.0002946806,0.00008369866,0.00006930534,0.0005623229,0.00007800121,0.0000900869,0.00008530799,0.000758888,0.00003053343],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005644423,"about_ca_system_score_gemma":0.0001556865,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001749249,"about_ca_topic_score_gemma":0.0001391822,"domain_scores_codex":[0.9978344,0.0005693208,0.0003280498,0.0003235841,0.0005257802,0.0004188248],"domain_scores_gemma":[0.9989111,0.000261739,0.0001382976,0.0004091787,0.0002131861,0.00006650181],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001630778,0.0006336039,0.6040304,0.00007254984,0.0001493886,0.001459,0.0006805654,0.0001237048,0.3850403,0.0001905136,0.004016196,0.001973046],"study_design_scores_gemma":[0.003073232,0.0007988974,0.9906976,0.00002885553,0.00004719413,0.0002159087,0.000008986416,0.0002351064,0.003397805,0.000104735,0.001319384,0.00007226418],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9474331,0.00007402393,0.00001006977,0.0512099,0.00008156901,0.0002303029,0.00001165049,0.0000171128,0.0009323232],"genre_scores_gemma":[0.9912894,0.0001781351,0.0001608738,0.007651986,0.0001834698,0.00003465487,0.00002589764,0.00002234375,0.0004532541],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3866673,"threshold_uncertainty_score":0.3413132,"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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