{"id":"W4407567885","doi":"10.1212/nxg.0000000000200241","title":"Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease","year":2025,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; National Institutes of Health; Karl-Franzens-Universität Graz; Österreichische Forschungsförderungsgesellschaft; National Institute on Aging; Medizinische Universität Graz; Oesterreichische Nationalbank; Case Western Reserve University; University of Toronto; Erasmus Medisch Centrum; Austrian Science Fund; ZonMw; European Commission; EU Joint Programme – Neurodegenerative Disease Research; Russian Foundation for Basic Research; National Institute on Deafness and Other Communication Disorders; University of Miami; National Human Genome Research Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Vanderbilt University","keywords":"Variable number tandem repeat; Tandem repeat; Disease; Genome; Genetics; Biology; Computational biology; Tandem; Medicine; Gene; Pathology; Genotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001280437,0.0002960201,0.0003859705,0.0004115811,0.000149959,0.00005805692,0.0005504402,0.000126747,0.0003158754],"category_scores_gemma":[0.0003420409,0.0003162404,0.0001621607,0.002222228,0.0002436327,0.00004941787,0.0002927577,0.000295455,0.0001608742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001726197,"about_ca_system_score_gemma":0.000195024,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000101902,"about_ca_topic_score_gemma":0.00003097793,"domain_scores_codex":[0.9968818,0.0006549468,0.0004507852,0.001159205,0.0002703235,0.0005829346],"domain_scores_gemma":[0.9983724,0.0002903142,0.00009916334,0.0009505342,0.00006651969,0.0002211189],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000173635,0.0004530995,0.6753842,0.00001133002,0.0001190451,0.0002865116,0.0000531388,0.084207,0.2364366,0.001613166,0.0007301634,0.0005321722],"study_design_scores_gemma":[0.001018571,0.0001093348,0.8954757,0.000004237404,0.00149381,0.00001344222,0.000005664062,0.0105982,0.06602453,0.003828131,0.02095297,0.0004754232],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992485,0.0006310255,0.0008667071,0.001307591,0.0004114724,0.000377841,0.0000983574,0.00007897388,0.003742959],"genre_scores_gemma":[0.9882098,0.0001338188,0.0002518207,0.01045381,0.00005360018,0.00007474329,0.00002292055,0.00003047821,0.0007690041],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2200915,"threshold_uncertainty_score":0.999929,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02206429515181884,"score_gpt":0.284584285265797,"score_spread":0.2625199901139782,"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."}}