{"id":"W2957790560","doi":"10.1186/s40478-019-0724-4","title":"C9orf72 intermediate expansions of 24–30 repeats are associated with ALS","year":2019,"lang":"en","type":"review","venue":"Acta Neuropathologica Communications","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":112,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Economic and Social Research Council; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; Horizon 2020 Framework Programme; Genentech; National Institutes of Health; IXICO; H. Lundbeck A/S; King's College London; Servier; EU Joint Programme – Neurodegenerative Disease Research; National Institute on Aging; National Institute for Health and Care Research; Northern California Institute for Research and Education; Eisai; Motor Neurone Disease Association; South London and Maudsley NHS Foundation Trust; Pfizer; Biogen; BioClinica; F. Hoffmann-La Roche; Wellcome Trust; University of Southern California; Eli Lilly and Company; U.S. Department of Defense; Medical Research Council; Meso Scale Diagnostics; Alzheimer's Disease Neuroimaging Initiative; Novartis Pharmaceuticals Corporation; Bristol-Myers Squibb; NIHR Sheffield Biomedical Research Centre; Alzheimer's Association; Foundation for the National Institutes of Health","keywords":"C9orf72; Neurology; Medicine; Biology; Neuroscience; Computational biology; Trinucleotide repeat expansion; Genetics; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0006607611,0.0005679346,0.002814748,0.00036199,0.0002484096,0.00004005236,0.002309352,0.0005061969,0.0002950169],"category_scores_gemma":[0.0028141,0.0003616407,0.0005771933,0.0009563591,0.0008307641,0.0001054957,0.001925853,0.00210505,0.0002003074],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001935893,"about_ca_system_score_gemma":0.0004434719,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000936099,"about_ca_topic_score_gemma":0.000008034457,"domain_scores_codex":[0.9947452,0.002222909,0.001194326,0.0006972607,0.0005987576,0.0005415396],"domain_scores_gemma":[0.9896069,0.001930632,0.001481232,0.006219622,0.0005180829,0.0002435798],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003073114,0.00983494,0.005733283,0.02590379,0.003223428,0.001934335,0.001387324,0.00000427208,0.003156945,0.000554933,0.01646948,0.9314899],"study_design_scores_gemma":[0.00130268,0.001810788,0.05339548,0.05131078,0.003520401,0.0005113126,0.00008365059,0.00003417738,0.000005897706,0.00002798647,0.8871114,0.0008854879],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.004116172,0.9866597,0.000005743236,0.001290872,0.0001293489,0.002994445,0.0003876103,0.0002548208,0.004161268],"genre_scores_gemma":[0.05404603,0.9426081,0.0003414834,0.0002139027,0.00003578881,0.0003492802,0.0007871244,0.000126441,0.001491808],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9306045,"threshold_uncertainty_score":0.9998835,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2553822698866514,"score_gpt":0.4034324649561599,"score_spread":0.1480501950695085,"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."}}