{"id":"W2340895726","doi":"10.1038/ncomms11253","title":"CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia","year":2016,"lang":"en","type":"article","venue":"Nature Communications","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":209,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; McGill University; Montreal Neurological Institute and Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute on Aging; Fundación Española para el Fomento de la Investigación de la Esclerosis Lateral Amiotrófica; Medical Research Council; National Institutes of Health; Canadian Institutes of Health Research; CurePSP; Motor Neurone Disease Research Institute of Australia; National Health and Medical Research Council; Motor Neurone Disease Association; ALS Therapy Alliance; ALS Association","keywords":"Frontotemporal dementia; Amyotrophic lateral sclerosis; Biology; Genetics; C9orf72; Ubiquitin ligase; Exome sequencing; TARDBP; Ubiquitin; Mutation; Mutant; Dementia; Gene; Disease; Medicine; Trinucleotide repeat expansion; Pathology","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":[0.0002366798,0.0001319988,0.0002087243,0.0002051274,0.000179113,0.00003355948,0.0003925983,0.0002201223,0.0001432829],"category_scores_gemma":[0.0001912135,0.00009029097,0.00005529751,0.0003257616,0.0003148982,0.0002150634,0.0003506379,0.0006842737,0.00005409345],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001402722,"about_ca_system_score_gemma":0.00008098089,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001557871,"about_ca_topic_score_gemma":0.00084667,"domain_scores_codex":[0.9987707,0.0001576045,0.0002869659,0.0002462745,0.0002557933,0.0002826837],"domain_scores_gemma":[0.9983011,0.0001832846,0.00005868927,0.001157637,0.000142847,0.0001563909],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00009365469,0.0003311211,0.9114482,0.00001652126,0.000125228,0.000008205723,0.0002931156,6.88696e-7,0.06303313,0.004346109,0.004526189,0.01577786],"study_design_scores_gemma":[0.00162072,0.00006687699,0.9859476,0.0001985738,0.00003704736,0.00001145565,0.00001773201,0.0001704565,0.00009366818,0.0004819121,0.01123988,0.000114089],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9020936,0.005241072,0.00005100473,0.09070397,0.00005649453,0.0004451256,0.00002858243,0.00007366393,0.001306481],"genre_scores_gemma":[0.9903821,0.002705596,0.005387524,0.0009871499,0.00003080751,0.0000895007,0.00005048623,0.00002326445,0.0003435309],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08971682,"threshold_uncertainty_score":0.3681959,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04608152415295605,"score_gpt":0.3289836810486354,"score_spread":0.2829021568956793,"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."}}