{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007966027,0.000404087,0.0005536516,0.00192238,0.000663103,0.0006124405,0.0004007719,0.0004768269,0.00222015],"category_scores_gemma":[0.002675214,0.0002418225,0.0004395227,0.001559084,0.0006380766,0.0002900878,0.0009890274,0.0002421649,0.0002001737],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003977578,"about_ca_system_score_gemma":0.000434056,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004175842,"about_ca_topic_score_gemma":0.009423694,"domain_scores_codex":[0.9987561,0.0002829176,0.0001662506,0.0004515205,0.0002200384,0.0001233075],"domain_scores_gemma":[0.9984224,0.0003894865,0.0007360195,0.0001343398,0.0001566666,0.0001611479],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003801258,0.00002920932,0.9908955,0.00002926607,0.0002097091,0.001644202,0.0002820806,0.00005432289,0.003373485,0.00008977453,0.0001119194,0.002900515],"study_design_scores_gemma":[0.000009592093,0.00003349112,0.99708,0.00001032916,0.00007722122,0.002107002,0.000134551,0.00007106948,0.0002093848,0.0001217937,0.0001410821,0.000004404078],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987566,0.0004206841,0.000136982,0.00003104691,0.000002894546,0.000005833659,0.0001338529,0.000006049107,0.0005060064],"genre_scores_gemma":[0.9994643,0.0001038515,0.0001372244,0.00002174077,0.000007762858,0.000005147635,0.0001762039,0.000002436166,0.00008123175],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004175842,"threshold_uncertainty_score":0.008303046,"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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