{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000520887,0.0005678978,0.0003179304,0.001206873,0.0007689378,0.0004948178,0.0002757157,0.0003401003,0.003207664],"category_scores_gemma":[0.001497052,0.0001655926,0.0002565853,0.0008418025,0.0003721359,0.0001691188,0.0004079743,0.0002102478,0.0001764555],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001489018,"about_ca_system_score_gemma":0.0002176436,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005038859,"about_ca_topic_score_gemma":0.006571337,"domain_scores_codex":[0.9995725,0.00008213839,0.00003409063,0.0001779668,0.00009047623,0.00004285729],"domain_scores_gemma":[0.9993943,0.0001943625,0.0002296432,0.00005486317,0.00004998221,0.00007678245],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006930028,0.0001046206,0.9442009,0.00005728145,0.0003702739,0.008863996,0.0008683275,0.0004344071,0.02912583,0.0005402424,0.0006054831,0.0141357],"study_design_scores_gemma":[0.00005763168,0.0000984922,0.9861224,0.00002688062,0.0001287432,0.007296533,0.0004381909,0.00109901,0.002606918,0.0004904208,0.001619395,0.00001522812],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984742,0.0001757816,0.0005013508,0.00002445032,0.000004545808,0.000008741208,0.0002799475,0.00001656239,0.0005144429],"genre_scores_gemma":[0.9984523,0.0001231252,0.0007014585,0.00002869745,0.00001161102,0.00001171785,0.0003752612,0.00001046945,0.0002852523],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005038859,"threshold_uncertainty_score":0.01073068,"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."}}