{"id":"W4213246082","doi":"10.1126/scitranslmed.abj0264","title":"Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS","year":2022,"lang":"en","type":"review","venue":"Science Translational Medicine","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":93,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Health and Medical Research Council; Economic and Social Research Council; Medical Research Council; Mitsubishi Tanabe Pharma Corporation; Vlaamse regering; Koç Üniversitesi; Prinses Beatrix Spierfonds; Knut och Alice Wallenbergs Stiftelse; KU Leuven; Ministero dell’Istruzione, dell’Università e della Ricerca; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Canadian Institutes of Health Research; Fonds Wetenschappelijk Onderzoek; King's College London; CSL Behring; National Institute for Health and Care Research; Alexion Pharmaceuticals; Apellis Pharmaceuticals; Argenx; EU Joint Programme – Neurodegenerative Disease Research; Ulla-Carin Lindquists stiftelse för ALS-forskning; Health~Holland; Regeneron Pharmaceuticals; Vetenskapsrådet; E-Rare; Cytokinetics; Motor Neurone Disease Research Institute of Australia; Eli Lilly and Company; Stichting ALS Nederland; Agence Nationale de la Recherche; Ministero della Salute; Alzheimer's Society; Wellcome Trust; Motor Neurone Disease Association; NIHR Maudsley Biomedical Research Centre; Västerbotten Läns Landsting; Sanofi; South London and Maudsley NHS Foundation Trust; Biogen; FightMND; Umeå Universitet; European Commission","keywords":"DNA methylation; Biology; Epigenome; Missing heritability problem; Genetics; Methylation; Genome-wide association study; Cholesterol; Disease; Gene; Bioinformatics; Medicine; Internal medicine; Endocrinology; Genotype; Gene expression; Single-nucleotide polymorphism","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":[0.001036215,0.000658899,0.001770978,0.00187423,0.0001356898,0.0006081788,0.0005811221,0.0007009339,0.001576403],"category_scores_gemma":[0.001267238,0.0002165187,0.0009256323,0.002627776,0.0002800894,0.0004760705,0.0004652581,0.0007989491,0.0004486766],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004418483,"about_ca_system_score_gemma":0.000932711,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001550427,"about_ca_topic_score_gemma":0.003278581,"domain_scores_codex":[0.9997486,0.00006682243,0.00003843604,0.0000702333,0.00005780904,0.00001799617],"domain_scores_gemma":[0.9994839,0.0003104463,0.00007943829,0.00001373292,0.00008438559,0.00002797416],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.000325432,0.00003057986,0.002359892,0.03921705,0.002483733,0.0001627457,0.00006768225,0.0004029505,0.001839022,0.001157694,0.009760029,0.9421931],"study_design_scores_gemma":[0.0002551674,0.0006184156,0.05921562,0.02820018,0.01675248,0.004571447,0.0002596525,0.0006225373,0.003268177,0.004576882,0.8815272,0.0001320614],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002820168,0.9992449,0.00007422004,0.0001605645,0.00003539454,0.000001947147,0.00003012841,0.000003900325,0.0001669139],"genre_scores_gemma":[0.003010672,0.9963904,0.0001855401,0.0001552661,0.00004919204,0.000005628432,0.00006613909,0.000001965892,0.0001351888],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00187423,"threshold_uncertainty_score":0.005480051,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1296476762804467,"score_gpt":0.3884332482948986,"score_spread":0.2587855720144518,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}