{"id":"W3205716796","doi":"10.1093/brain/awab171","title":"<i>SLITRK2</i>, an X-linked modifier of the age at onset in <i>C9orf72</i> frontotemporal lobar degeneration","year":2021,"lang":"en","type":"article","venue":"Brain","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; Sunnybrook Health Science Centre","funders":"National Institute of Neurological Disorders and Stroke; NIHR Newcastle Biomedical Research Centre; National Health and Medical Research Council; Medical Research Council; Stiftelsen Konsul Thure Carlssons Minne; Association pour la Recherche sur la Sclérose Latérale Amyotrophique et autres Maladies du Motoneurone; Alzheimer's Society; Ministero della Salute; Direction Générale de l’offre de Soins; King Faisal Specialist Hospital and Research Centre; University of New South Wales; Newcastle University; Neuroscience Research Australia; University of Oxford; Fondation pour l'Aide à la Recherche sur la Sclérose en Plaques; King's College London; National Institute for Health and Care Research; Fondazione Cariplo; Canadian Institutes of Health Research; Fondation Vaincre Alzheimer; Fondation Maladies Rares; Association France Parkinson; Agence Nationale de la Recherche; Wellcome Trust; National Institutes of Health; U.S. Department of Health and Human Services; Alzheimer's Research Trust; U.S. Department of Defense","keywords":"C9orf72; Amyotrophic lateral sclerosis; Frontotemporal dementia; Dementia; Age of onset; Cohort; Minor allele frequency; Frontotemporal lobar degeneration; Allele; Biology; Trinucleotide repeat expansion; Genetics; Internal medicine; Oncology; Medicine; Disease; Allele frequency; Gene","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":[0.0004157646,0.000124115,0.000269219,0.00004555828,0.00006633676,0.00001872827,0.0001587883,0.000136599,0.0003608667],"category_scores_gemma":[0.0002790495,0.00008839957,0.0001015379,0.0003136312,0.0001139821,0.0001000168,0.000167905,0.0002374051,0.00002708727],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002083408,"about_ca_system_score_gemma":0.0002154019,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00050374,"about_ca_topic_score_gemma":0.002601898,"domain_scores_codex":[0.9982243,0.0003475058,0.0003340738,0.000308074,0.0004947965,0.0002912795],"domain_scores_gemma":[0.9990624,0.00006245339,0.00006099278,0.0006107551,0.00009455191,0.0001088074],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000278379,0.0003272014,0.1175656,0.00006147971,0.00002679924,0.0002167874,0.0008493598,0.0001621807,0.8611886,0.0002604449,0.01763302,0.001430181],"study_design_scores_gemma":[0.002606716,0.0001380424,0.9362308,0.0001227412,0.00001736519,0.00004796248,0.00007899042,0.001635845,0.05257517,0.000358371,0.006031243,0.0001567783],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9888743,0.0002009022,0.00004276148,0.009195605,0.00008917978,0.0003501417,0.00002890305,0.00001932194,0.001198866],"genre_scores_gemma":[0.9888327,0.00002104284,0.0007050089,0.002552958,0.0001103892,0.00002007175,0.0001379352,0.00002246248,0.007597489],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8186652,"threshold_uncertainty_score":0.3951237,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0455047154937065,"score_gpt":0.3093534777130329,"score_spread":0.2638487622193264,"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."}}