{"id":"W2951968424","doi":"10.1002/acn3.582","title":"Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease","year":2018,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":165,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"U.S. National Library of Medicine; National Institute of Neurological Disorders and Stroke; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institute on Aging; National Institutes of Health; National Association for Colitis and Crohn's Disease; University of Toronto; Case Western Reserve University; National Institute of Child Health and Human Development; National Alzheimer's Coordinating Center; Baylor College of Medicine; University of Miami; Muscular Dystrophy Association; University of Pennsylvania; Ellison Medical Foundation; American Academy of Child and Adolescent Psychiatry; Vanderbilt University; Biogen; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute","keywords":"Exome sequencing; Loss function; Disease; Medicine; Exome; Alzheimer's disease; Genetics; Gene; Bioinformatics; Biology; Internal medicine; Mutation; Phenotype","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":[0.0002733435,0.00008917115,0.000197624,0.0000516996,0.00003045697,0.00000440311,0.00008473369,0.0001268464,0.0000114619],"category_scores_gemma":[0.0001314013,0.00008453392,0.0001137584,0.00004848171,0.0002289946,0.000005383811,0.0000208336,0.00007518491,0.00000123745],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":1.399683e-7,"about_ca_system_score_gemma":0.000161741,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001318242,"about_ca_topic_score_gemma":0.0001590439,"domain_scores_codex":[0.9989687,0.00008865835,0.0004063401,0.0003106928,0.00005374463,0.0001719052],"domain_scores_gemma":[0.9995198,0.0001236391,0.00006743566,0.0001071826,0.00007329237,0.0001086717],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00684659,0.0004681292,0.9759883,0.00005149681,0.0001635616,0.00007223784,0.0001266227,0.0005453263,0.005329163,0.002151542,0.0009517596,0.007305228],"study_design_scores_gemma":[0.001455265,0.0005800869,0.9797836,0.00001035079,0.00002472945,0.00000557147,0.000007420887,0.001427885,0.0002289327,0.006569825,0.009783695,0.0001226454],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923857,0.00122608,0.00008737732,0.005584201,0.00010378,0.0001644853,0.0003290762,0.000002080126,0.000117247],"genre_scores_gemma":[0.9968191,0.0001680493,0.0001197039,0.002485433,0.0002197792,0.00001259506,0.0001522617,0.000008932684,0.00001412768],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008831935,"threshold_uncertainty_score":0.3447194,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1165833155707187,"score_gpt":0.3879152153584751,"score_spread":0.2713318997877563,"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."}}