{"id":"W2797148904","doi":"10.1001/jamaneurol.2018.0372","title":"Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum","year":2018,"lang":"en","type":"article","venue":"JAMA Neurology","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":95,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute on Aging; Cambridge Institute for Medical Research, University of Cambridge; Institute on Aging, University of Pennsylvania; NIH Clinical Center; Helmholtz Zentrum München; University of California, Irvine; Perelman School of Medicine, University of Pennsylvania; School of Medicine, Emory University; National Institutes of Health; Instituut Born-Bunge; Universiteit Antwerpen; Università degli Studi di Salerno; Medical Research Council; Uppsala Universitet; University of California, San Francisco; Universität des Saarlandes; Radboud Universiteit; University of British Columbia; National Institute of Neurological Disorders and Stroke; Deutsches Zentrum für Neurodegenerative Erkrankungen; Leids Universitair Medisch Centrum; King's College London; Centre National de la Recherche Scientifique; Vlaams Instituut voor Biotechnologie; Université du Luxembourg; Università degli Studi di Firenze; Eberhard Karls Universität Tübingen; Universiteit Leiden; Universidad de Navarra; Karolinska Institutet; Institut National de la Santé et de la Recherche Médicale; Université Pierre et Marie Curie; University of Bristol; David Geffen School of Medicine, University of California, Los Angeles; University of Manchester; Children's Hospital of Philadelphia; Directorate for Biological Sciences; Université de Lille; Università degli Studi di Napoli Federico II; Broad Institute; University of Oxford; Neuroscience Research Australia; Universiteit van Amsterdam; Newcastle University; University of Cambridge; University of New South Wales; University of Pittsburgh; Rigshospitalet; University of California, San Diego; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas; Johns Hopkins University; School of Medicine, Boston University; Imperial College London; University of Toronto; University of Alberta; Rush University; Alzheimer's Disease Research Center, Emory University; University of Pennsylvania; U.S. Department of Veterans Affairs; Technische Universität München; Gentofte Hospital; Queen Mary University of London; Cardiff University; Assistance publique-Hôpitaux de Paris; Biogen; University of Rochester; Emory University; University College London; Wellcome Trust; University of Southern California; Erasmus Universitair Medisch Centrum Rotterdam; University of Aberdeen; Massachusetts General Hospital","keywords":"C9orf72; Frontotemporal dementia; Amyotrophic lateral sclerosis; Progressive supranuclear palsy; Corticobasal degeneration; Frontotemporal lobar degeneration; Genetics; Disease; Dementia; Medicine; Neuroscience; Psychology; Biology; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009344384,0.0001791658,0.0003875197,0.00009352617,0.0001400702,0.00002430446,0.000216564,0.0001952924,0.0001911737],"category_scores_gemma":[0.000108523,0.0001208132,0.0001055991,0.0002460975,0.0007823928,0.00008127627,0.0003097694,0.00044536,0.00002333859],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002792107,"about_ca_system_score_gemma":0.00008763922,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004186164,"about_ca_topic_score_gemma":0.00005915509,"domain_scores_codex":[0.9981866,0.0002858736,0.0003094966,0.0004147306,0.0003421725,0.0004610541],"domain_scores_gemma":[0.999078,0.00009019654,0.0001271328,0.0004147289,0.0001073651,0.0001826212],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005243266,0.00005788016,0.9874224,0.00002900293,0.0001491797,0.0000110397,0.00009393413,0.000001492061,0.009678711,0.00002702051,0.0006988551,0.001306132],"study_design_scores_gemma":[0.001567685,0.001937414,0.9935741,0.00002738454,0.0001756855,0.00002425467,0.000002190266,0.0001659228,0.001263874,0.0009035207,0.0002627813,0.00009522785],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892833,0.0003081068,0.00001666473,0.009555448,0.0001479348,0.000432799,0.0000321449,0.00003224175,0.0001913677],"genre_scores_gemma":[0.9976234,0.00007368775,0.00008138587,0.001291685,0.0007949781,0.00001547494,0.000005270252,0.00003107578,0.00008308112],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008414838,"threshold_uncertainty_score":0.492662,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02026298435921259,"score_gpt":0.2563660618119192,"score_spread":0.2361030774527066,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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