{"id":"W2892538941","doi":"10.1093/brain/awy238","title":"A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers","year":2018,"lang":"en","type":"article","venue":"Brain","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":51,"is_retracted":false,"has_abstract":true,"ca_institutions":"Baycrest Hospital; Sunnybrook Health Science Centre; University of Toronto; University Health Network; Canada Research Chairs; Toronto Western Hospital; Health Sciences Centre; Occupational Cancer Research Centre","funders":"National Institute of Neurological Disorders and Stroke; Instituto de Salud Carlos III; National Health and Medical Research Council; Temerty Family Foundation; Vlaamse regering; National Institutes of Health; Universiteit Antwerpen; Alzheimer’s Society; Swedish Brain Power; Vetenskapsrådet; Alzheimer's Society; Ministero della Salute; Fonds Wetenschappelijk Onderzoek; Agence Nationale de la Recherche; National Institute for Health and Care Research; National Institute on Aging; Consortium canadien en neurodégénérescence associée au vieillissement; EU Joint Programme – Neurodegenerative Disease Research; Karolinska Institutet; Stockholms Läns Landsting; Fondation Brain Canada; Consejo Nacional de Investigaciones Científicas y Técnicas; Medical Research Council; ALS Society of Canada","keywords":"C9orf72; Genetics; Biology; DNA methylation; Epigenetics; Age of onset; Genome-wide association study; Single-nucleotide polymorphism; Allele; Linkage disequilibrium; Genetic association; CpG site; Locus (genetics); Amyotrophic lateral sclerosis; Trinucleotide repeat expansion; Medicine; Haplotype; Gene; Genotype; Disease; Internal medicine","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":[0.0009598964,0.0007411657,0.001018981,0.001129501,0.0005453551,0.0006497062,0.0004490433,0.001014735,0.00244219],"category_scores_gemma":[0.00190466,0.0003685412,0.002466176,0.001755396,0.0003080498,0.0002855264,0.0003764943,0.0006320538,0.0002268437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000275438,"about_ca_system_score_gemma":0.0002120044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006869823,"about_ca_topic_score_gemma":0.005876437,"domain_scores_codex":[0.9994252,0.0001291754,0.00005921442,0.0002621726,0.00006807431,0.00005622167],"domain_scores_gemma":[0.9988424,0.0004790307,0.0003772382,0.000110979,0.00006641621,0.000123886],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.009301789,0.00007102844,0.9520596,0.0003203643,0.008448509,0.002925447,0.0002373361,0.0006226701,0.01641153,0.0001228093,0.0005227212,0.008956186],"study_design_scores_gemma":[0.0001229842,0.0002395612,0.9907653,0.00004655266,0.005199565,0.001255426,0.0000693806,0.0009646912,0.0006819714,0.0001492111,0.0004880427,0.00001729581],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947903,0.003860037,0.0004010611,0.00007509786,0.00002963759,0.000007762931,0.0004777484,0.00002632178,0.0003319245],"genre_scores_gemma":[0.9987877,0.0005170222,0.0001718304,0.00002266675,0.0000210559,0.000004820652,0.0002524421,0.000009948172,0.0002125334],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006869823,"threshold_uncertainty_score":0.01365966,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0268097730604379,"score_gpt":0.3055148885999474,"score_spread":0.2787051155395095,"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."}}