{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003743007,0.0003278209,0.001663042,0.002191334,0.0001465158,0.00002078986,0.0003759166,0.00009566805,0.0006175024],"category_scores_gemma":[0.0005008606,0.0002431535,0.00008638428,0.002699432,0.0006582122,0.0003477958,0.00009047202,0.0007245882,0.000003161387],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00020136,"about_ca_system_score_gemma":0.001009849,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001802148,"about_ca_topic_score_gemma":0.0004161687,"domain_scores_codex":[0.9948817,0.0004467663,0.00149766,0.0007303575,0.002036902,0.0004066112],"domain_scores_gemma":[0.9983261,0.0006168138,0.0002977551,0.0004095447,0.0001297864,0.0002200366],"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":[0.0001723673,0.001430214,0.0411404,0.006353723,0.0001914124,0.0001125924,0.0215137,0.0003608657,0.003996256,0.0009128365,0.000006222433,0.9238094],"study_design_scores_gemma":[0.004854527,0.0009338669,0.9295424,0.004383666,0.0004216147,0.00004012766,0.0007106646,0.0003360255,0.00001061024,0.0002530942,0.05812144,0.0003919236],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.2144626,0.7797908,0.00003376363,0.0005927745,0.0001277562,0.004499521,0.000032638,0.00002055713,0.0004396317],"genre_scores_gemma":[0.2708203,0.7282084,0.0001073645,0.00005940747,0.000124223,0.0004820152,0.0001248948,0.00003333943,0.00004005572],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9234175,"threshold_uncertainty_score":0.9915513,"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."}}