{"id":"W4408989290","doi":"10.1101/2025.03.28.25324785","title":"Neurodevelopmental effects of genetic frontotemporal dementia mutations revealed by total intracranial volume differences","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; Douglas Mental Health University Institute; Université Laval; Parkwood Institute; Sunnybrook Health Science Centre; Lawson Health Research Institute; Western University","funders":"Canadian Institutes of Health Research; Alzheimer Nederland; Stichting Dioraphte; Instituto de Salud Carlos III; ZonMw","keywords":"Frontotemporal dementia; Brain size; Dementia; Volume (thermodynamics); Neuroscience; Mutation; Medicine; Psychology; Genetics; Psychiatry; Internal medicine; Biology; Gene; Magnetic resonance imaging; Radiology; Disease","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[{"model":"gemma","categories":[],"domain":null,"study_design":"observational","genre":"empirical","about_ca_system":false,"about_ca_topic":false,"confidence":"high","status":"direct model label, unvalidated"},{"model":"gpt","categories":[],"domain":null,"study_design":"observational","genre":"empirical","about_ca_system":false,"about_ca_topic":false,"confidence":"high","status":"direct model label, unvalidated"}],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005091259,0.0003709035,0.0002292373,0.0009635203,0.0002859244,0.0005085829,0.0002685351,0.0002716825,0.002060017],"category_scores_gemma":[0.001789071,0.0001493726,0.0003332308,0.0004969138,0.0002984662,0.0002906343,0.0003711953,0.0002894717,0.0001564757],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001847731,"about_ca_system_score_gemma":0.0001527934,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00562943,"about_ca_topic_score_gemma":0.005190282,"domain_scores_codex":[0.999693,0.00006311746,0.00004033889,0.00009270794,0.00006597674,0.00004490705],"domain_scores_gemma":[0.99885,0.0002792733,0.000566924,0.00007675674,0.00008896129,0.0001381272],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003024966,0.00002420089,0.9973387,0.000007723776,0.00008038495,0.0001751542,0.0001003311,0.00003263267,0.0007483874,0.00002090792,0.00004003469,0.001128977],"study_design_scores_gemma":[0.000002075153,0.00005660729,0.9994837,0.00000211857,0.00001146987,0.000216093,0.00006225911,0.00003719105,0.00008695944,0.00001615634,0.00002419618,0.00000108224],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995709,0.00007987115,0.00002313495,0.000006375676,0.000001550986,0.000001582032,0.0001453165,0.000001539131,0.0001697166],"genre_scores_gemma":[0.9996699,0.00002850969,0.00003951001,0.0000046841,0.000002353093,0.000002896115,0.000157704,8.968401e-7,0.00009353514],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00562943,"threshold_uncertainty_score":0.01119334,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005332220274225762,"score_gpt":0.2274436513294651,"score_spread":0.2221114310552394,"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."}}