{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000453363,0.0001349516,0.0003609734,0.0001695195,0.00003703812,0.00001132843,0.0001379626,0.0001356243,0.0007446863],"category_scores_gemma":[0.0006365881,0.0001004176,0.00005453842,0.0006324059,0.0004706196,0.00005375574,0.00006080812,0.0002507435,0.00006074502],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001978966,"about_ca_system_score_gemma":0.0002115937,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009757985,"about_ca_topic_score_gemma":0.0009804172,"domain_scores_codex":[0.9984232,0.0001190753,0.0002548916,0.0002657521,0.0005160267,0.0004210933],"domain_scores_gemma":[0.9991318,0.0001281155,0.00007419076,0.0003369839,0.0001523719,0.000176512],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004447487,0.00133137,0.5611579,0.0002879401,0.0009292168,0.002784621,0.01855638,0.000008093262,0.2198236,0.0003695042,0.1759311,0.01437274],"study_design_scores_gemma":[0.005572923,0.001955471,0.9790857,0.0006716755,0.00003548652,0.00003323324,0.0002238888,0.0003058431,0.00646643,0.0002303282,0.005178258,0.000240757],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9905545,0.00003688952,0.00002555451,0.005232909,0.00002864779,0.0003736664,0.00003516913,0.00003362372,0.003679049],"genre_scores_gemma":[0.9934666,0.000006269889,0.000181073,0.001411547,0.00006660722,0.00001553443,0.00003629529,0.00002961198,0.004786468],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4179278,"threshold_uncertainty_score":0.8153793,"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."}}