{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000232931,0.0005534912,0.0002885911,0.0007812391,0.0003733748,0.0002651608,0.0002317989,0.0003859589,0.001758958],"category_scores_gemma":[0.0005182521,0.000106903,0.0004403885,0.000473471,0.0002774944,0.0001030198,0.0002457766,0.0003326405,0.0002203514],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000260983,"about_ca_system_score_gemma":0.0001273511,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003155428,"about_ca_topic_score_gemma":0.003366834,"domain_scores_codex":[0.9998191,0.00003121527,0.00001739497,0.00008567079,0.00002634696,0.00002030697],"domain_scores_gemma":[0.9997019,0.00006452695,0.0001505845,0.0000213546,0.00002157162,0.00004000918],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004482433,0.0002085337,0.6791957,0.000109209,0.0004127711,0.007576722,0.0003631587,0.000451441,0.2903101,0.0002830052,0.0007139654,0.01589304],"study_design_scores_gemma":[0.0000236439,0.0001615329,0.9883263,0.000008800348,0.0001143339,0.003658178,0.00004132962,0.0004899271,0.006575934,0.00008279901,0.0005074337,0.000009697588],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990471,0.0001079089,0.0002914814,0.00002313355,0.000007138596,0.000006441673,0.000279921,0.00001563525,0.0002211603],"genre_scores_gemma":[0.999144,0.00004156607,0.000298201,0.00002159531,0.000009114636,0.00000474272,0.0001945462,0.000007908518,0.0002782754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003155428,"threshold_uncertainty_score":0.006274164,"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."}}