{"id":"W2902034093","doi":"10.1212/nxg.0000000000000286","title":"Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease","year":2018,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"U.S. National Library of Medicine; National Institute of Neurological Disorders and Stroke; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institute on Aging; Medizinische Universität Graz; Karl-Franzens-Universität Graz; National Institutes of Health; Österreichische Forschungsförderungsgesellschaft; Oesterreichische Nationalbank; University of California, San Diego; University of Toronto; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Erasmus Medisch Centrum; National Institute on Deafness and Other Communication Disorders; Capital Medical University; Austrian Science Fund; National Human Genome Research Institute; Russian Foundation for Basic Research; ZonMw; Institut National de la Santé et de la Recherche Médicale; Vanderbilt University; EU Joint Programme – Neurodegenerative Disease Research; Fondation Leducq; Agence Nationale de la Recherche; Wellcome Trust; University College London; Case Western Reserve University; Cleveland Clinic; CurePSP; University of Pennsylvania; European Commission; Denali Therapeutics; Fidelity Foundation; Biogen; Pfizer; University of Miami; Deutsches Zentrum für Neurodegenerative Erkrankungen; McKnight Foundation; Alzheimer's Association; U.S. Department of Defense; Cystic Fibrosis Foundation; Edward N. and Della L. Thome Memorial Foundation; U.S. Department of Agriculture; U.S. Department of Health and Human Services","keywords":"Genetics; Disease; Gene; Candidate gene; Genetic variation; Biology; Medicine; Pathology","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":[],"consensus_categories":[],"category_scores_codex":[0.0001566621,0.0002553417,0.0002482338,0.0001139312,0.0001129521,0.00001360407,0.0002804463,0.00031823,0.00004209883],"category_scores_gemma":[0.00007843297,0.0002407568,0.00005845775,0.0002383362,0.0002550649,0.000002919857,0.0001432937,0.0001650108,0.00005164876],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009405248,"about_ca_system_score_gemma":0.0001316968,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002786489,"about_ca_topic_score_gemma":0.0003376037,"domain_scores_codex":[0.9981076,0.0002180011,0.0003688703,0.000674487,0.0001116926,0.0005193425],"domain_scores_gemma":[0.9988511,0.0000281299,0.0001619854,0.0006321819,0.000175627,0.000150941],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002955821,0.00008427654,0.9737908,0.000004995717,0.00006181475,0.00001332765,0.0001006152,0.002183104,0.02051607,0.000008717673,0.00135392,0.001586745],"study_design_scores_gemma":[0.0007814178,0.001332561,0.9900907,0.000002957937,0.00007914352,0.00002420556,0.00001205073,0.002583364,0.0007517964,0.0001289519,0.003964317,0.0002485141],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938627,0.0006001646,0.003464743,0.001039128,0.000208822,0.0003685411,0.00002436182,0.00001960407,0.0004118797],"genre_scores_gemma":[0.9935268,0.0004173972,0.002627235,0.002740041,0.0003598776,0.00008113517,0.0001164739,0.00004736481,0.00008374023],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01976427,"threshold_uncertainty_score":0.9817775,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009914374619999148,"score_gpt":0.2460137805829332,"score_spread":0.236099405962934,"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."}}