{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007267926,0.0002099648,0.0001875943,0.001052423,0.0001973995,0.0002996743,0.0002130835,0.0003195395,0.001213056],"category_scores_gemma":[0.001108304,0.00007556871,0.0001709319,0.0006842108,0.0001832411,0.0001316347,0.0002136016,0.00021995,0.0001553496],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001222538,"about_ca_system_score_gemma":0.0001553225,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001626133,"about_ca_topic_score_gemma":0.002470453,"domain_scores_codex":[0.9996862,0.0001304013,0.0000273065,0.00008012627,0.00005715476,0.0000188135],"domain_scores_gemma":[0.9996397,0.0001553217,0.00009776915,0.0000340022,0.00003961333,0.00003368044],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001100776,0.0001415598,0.8659785,0.0002252329,0.0007611577,0.001207164,0.0002020718,0.001558179,0.05316929,0.0004889562,0.001086477,0.07408074],"study_design_scores_gemma":[0.00003128805,0.0002022718,0.9841314,0.00004151564,0.0002110374,0.003581612,0.00008978032,0.001964028,0.006820601,0.0009513272,0.00196203,0.00001324735],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906783,0.00229201,0.004170917,0.000123846,0.00002349923,0.00002498723,0.001188264,0.00004625016,0.00145192],"genre_scores_gemma":[0.9917543,0.0006371454,0.006197858,0.00006602444,0.00001584618,0.0000180502,0.0008121916,0.00001160338,0.0004871288],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001626133,"threshold_uncertainty_score":0.004058063,"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."}}