{"id":"W4390195142","doi":"10.1002/alz.078351","title":"Association of low‐frequency and rare variants with cognition in genetic frontotemporal dementia: Results from GENFI","year":2023,"lang":"en","type":"article","venue":"Alzheimer s & Dementia","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Western University; Université Laval; Ontario Brain Institute; Baycrest Hospital; Health Sciences Centre; Occupational Cancer Research Centre; Sunnybrook Hospital; University of Toronto; SickKids Foundation; Sunnybrook Health Science Centre","funders":"","keywords":"Frontotemporal dementia; Genetics; Dementia; Minor allele frequency; Allele; C9orf72; Population; Frameshift mutation; Allele frequency; Biology; Psychology; Medicine; Mutation; Disease; Gene; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.002539771,0.0007046708,0.0004684517,0.0012424,0.0007725831,0.00099426,0.000884335,0.0008384435,0.001736542],"category_scores_gemma":[0.004474837,0.0001867405,0.001190509,0.001293006,0.0004493081,0.0002901003,0.0008122819,0.0006865904,0.0002546408],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000453122,"about_ca_system_score_gemma":0.0002885481,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01640994,"about_ca_topic_score_gemma":0.01811604,"domain_scores_codex":[0.9989114,0.0002589864,0.0001116072,0.0004260804,0.0001881967,0.0001038926],"domain_scores_gemma":[0.9967343,0.001203025,0.0008229411,0.0004474622,0.000442346,0.0003499882],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008344429,0.0000489326,0.9944929,0.00002331906,0.0005515233,0.0001947243,0.0002052505,0.0001571516,0.001087232,0.00003695181,0.0003163308,0.002051319],"study_design_scores_gemma":[0.00001934779,0.00006885004,0.9988662,0.000004520744,0.0002183795,0.0001823118,0.00006857522,0.0001638963,0.0001964897,0.00002986963,0.000176146,0.000005381491],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976074,0.0001734082,0.0001283615,0.00004102767,0.00000510663,0.000005679477,0.001710516,0.000007563033,0.0003209587],"genre_scores_gemma":[0.9969732,0.00004740467,0.0002095386,0.00004714318,0.00001095233,0.000014461,0.002432245,0.000008244078,0.0002568346],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01640994,"threshold_uncertainty_score":0.03262883,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02988473081992399,"score_gpt":0.2743228665157991,"score_spread":0.2444381356958751,"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."}}