{"id":"W2750320785","doi":"10.1038/s41598-017-09320-z","title":"Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS","year":2017,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University of Alberta; Health Sciences Centre; University of British Columbia","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; NIHR Cambridge Biomedical Research Centre; NIHR Newcastle Biomedical Research Centre; National Health and Medical Research Council; CurePSP; Australian Research Council; National Institutes of Health; Alzheimer Nederland; Stiftelsen Konsul Thure Carlssons Minne; National Institute for Health and Care Research; Vlaamse regering; Swedish Brain Power; Medical Research Council; Texas Tech University; Hersenstichting; Universiteit Antwerpen; Novo Nordisk; Karolinska Institutet; University College London Hospitals NHS Foundation Trust; Ministero dell’Istruzione, dell’Università e della Ricerca; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Judith Jane Mason and Harold Stannett Williams Memorial Foundation; Fondation pour la Recherche sur Alzheimer; Canadian Institutes of Health Research; Alzheimer's Society; Ministero della Salute; Vetenskapsrådet; Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease; Fondazione Cariplo; Belgian Federal Science Policy Office; King's College London; U.S. Department of Defense; Alzheimer's Research Trust; Texas Tech University Health Sciences Center; Agence Nationale de la Recherche; Wellcome Trust; Bundesministerium für Bildung und Forschung; King Faisal Specialist Hospital and Research Centre; Fonds Wetenschappelijk Onderzoek; Novo Nordisk Fonden; Newcastle University; Fondazione Cassa di Risparmio di Pistoia e Pescia; Instituut Born-Bunge; Stichting Dioraphte; MetLife Foundation; U.S. Department of Health and Human Services; Stockholms Läns Landsting; Fondation pour la Recherche Médicale","keywords":"Frontotemporal dementia; Amyotrophic lateral sclerosis; Genome-wide association study; Candidate gene; DNA methylation; Genetics; Biology; C9orf72; Gene; Epigenetics; Dementia; Disease; Medicine; Single-nucleotide polymorphism; Pathology; Gene expression","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":[0.0008394954,0.0005925264,0.0006371475,0.001923539,0.0005025463,0.0006058268,0.0004260009,0.0007886753,0.001893579],"category_scores_gemma":[0.001713924,0.0002959955,0.001460345,0.001831335,0.0003600116,0.0002242521,0.0005601886,0.0005101845,0.0001971452],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002666921,"about_ca_system_score_gemma":0.0002991976,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00515725,"about_ca_topic_score_gemma":0.004452489,"domain_scores_codex":[0.9991552,0.000178505,0.00008547839,0.0003582791,0.0001277557,0.00009478647],"domain_scores_gemma":[0.9994573,0.0001506663,0.0001914219,0.00006830203,0.00004627006,0.0000860337],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001471376,0.00004815441,0.9675934,0.0001076453,0.001971296,0.001196986,0.0002927404,0.0003005027,0.01872221,0.000282976,0.0003245115,0.007688202],"study_design_scores_gemma":[0.0000284634,0.00006398521,0.996987,0.00001408588,0.0005283562,0.0008198668,0.00007520056,0.0004214736,0.000483981,0.0002062464,0.0003638961,0.000007345317],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958693,0.001791138,0.0008598768,0.00009071211,0.00001586336,0.0000162193,0.0007714438,0.0000302085,0.0005551244],"genre_scores_gemma":[0.9985616,0.0002218073,0.0005033631,0.00003893985,0.00001085264,0.00001178897,0.0004625657,0.000006991384,0.0001823028],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00515725,"threshold_uncertainty_score":0.0102545,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02568994222157437,"score_gpt":0.2704501079780943,"score_spread":0.2447601657565199,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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